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Background: This study evaluated the clinical data on ophthalmic follow-up and treatment efficacy of hereditary vitreoretinal amyloidosis kindred due to transthyretin Gly83Arg variant over a 15-year follow-up period., Methods: The clinical data of patients with hereditary ATTRG83R amyloidosis from 2006 to 2021 were analysed retrospectively. Sanger sequencing of the transthyretin gene, detailed medical history, pedigree charting, and systemic and ophthalmic examinations were carried out in all patients. The changes of best-corrected visual acuity (BCVA) after vitrectomy and the associations of amyloidosis recurrence and post-vitrectomy glaucoma were analysed., Results: Fourteen patients with ATTRG83R were included, all experiencing vision loss due to vitreous opacities. The average age of onset was 40.93 ± 6.96 (29 to 52) years. The preoperative BCVA was 2.20 ± 0.69 logMAR, whereas the postoperative BCVA improved to 0.13 ± 0.35 logMAR (P < 0.05). The recurrence time was 58.83 ± 20.85 months after vitrectomy. At 90 months after vitrectomy, the cumulative recurrence rate was 94.7%. Eight eyes developed glaucoma after vitrectomy. None of the 5 eyes without vitrectomy developed glaucoma. Paired chi-square test showed a significant difference in the incidence rate of glaucoma between eyes with or without vitrectomy (P < 0.05). However, retinal amyloid angiopathy and cataract surgery were not associated with glaucoma (P > 0.05). Poor intraocular pressure control in 7 eyes resulted in severe visual impairment., Conclusions: Hereditary ATTRG83R amyloidosis predominantly manifests as vitreous opacity, and vitrectomy can improve the visual acuity in affected patients. However, the recurrence of amyloidosis and related complications significantly impact long-term visual outcomes. Thus, delaying vitrectomy appropriately and maintaining regular follow-up visits is advisable., Competing Interests: Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: This study was approved by the Ethical Review Board of Zunyi Medical University with approval ID (2018)1-060., (© 2024. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Purpose: To analyze myopic maculopathy's progression pattern., Design: Retrospective, observational case series., Methods: A total of 824 highly myopic eyes (axial length ≥26 mm) of 430 patients examined at Puerta de Hierro-Majadahonda University Hospital (Madrid, Spain) with a minimum follow-up of 2 years. All patients underwent complete ophthalmologic examination, including multimodal imaging. Progression of myopic maculopathy was assessed according to ATN classification system at baseline and throughout the follow-up, as well as associated clinical features., Results: Progression of myopic maculopathy was described in 42% of eyes over a mean follow-up of 4.10 ± 1.28 (range, 2.00-6.23) years. Compared with nonprogressing eyes, myopic maculopathy progression correlated with worse best-corrected visual acuity (BCVA) at follow-up (P < .05) and greater BCVA loss (P < .01). There were no significant differences between groups in axial length, gender, and age (P > .05). Eyes with posterior staphyloma (PS) and, particularly, those with macular PS showed significantly greater myopic maculopathy progression (P < .01). The likelihood of myopic maculopathy's progression was 3.94 times higher (odds ratio, 3.94 ± 1.22, P < .01) in eyes with PS compared with those without PS. Atrophic progression occurred in 21.9% of eyes, with diffuse to patchy atrophy being the most common pattern (54.17%). Tractional progression was observed in 22.8% of eyes, predominantly from nontraction to inner/outer foveoschisis (40%). Neovascular progression affected 11.4% of the eyes, most of them from no neovascular component to macular lacquer cracks (40%)., Conclusions: This study highlights significant myopic maculopathy progression over the natural course of the disease, compromising the BCVA as macular complications progress. Myopic maculopathy progression was significantly associated with PS, especially in those with macular involvement., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Purpose: To assess choroidal changes associated to optic disc pit maculopathy (ODP-M) and their evolution after surgical treatment., Design: Multicentric retrospective case series., Methods: An analysis of 42 patients affected by unilateral ODP-M undergoing surgical treatment between 2013 and 2023 was conducted. Optical coherence tomography (OCT) was performed at baseline and postoperative months 1, 6, 12, and 24 and most recent follow-up. Subfoveal choroidal thickness (SFCT) and peripapillary choroidal thickness (PPCT) were measured in ODP-M and fellow eyes. The presence of retinal pigmented epithelium (RPE) atrophy was used to distinguish between "early" and "advanced" disease, and data regarding fluid localization were collected., Results: Baseline SFCT in ODP-M eyes was significantly higher than fellow eyes (386.8 ± 88.9 vs 334.4 ± 72.2 µm, P = 0.002), in contrast to PPCT (192.6 ± 47.8 vs 181.2 ± 45.7 µm, P = .46). SFCT significantly decreased 1 month postoperatively (mean reduction 36.5 µm, P = .009) and remained below preoperative values throughout the follow-up, showed a mean reduction of 79.4 µm at final follow-up (P < .001). Conversely, PPCT showed no changes between preoperative and postoperative values (all P > .05). Nine eyes (21.4%) showed submacular dilated choroidal vessels, correlated with the presence of subretinal fluid (P = .008) and reducing in caliber after surgical treatment. The 10 eyes (23.8%) with advanced disease had lower baseline SFCT and worse best-corrected visual acuity compared to the early disease subgroup, and showed a delayed reduction of choroidal swelling postoperatively., Conclusions: Subfoveal choroid may thicken and remodel in response to ODP-M, eventually returning to physiological values after surgical treatment. Moreover, the presence of RPE atrophy may influence retino-choroidal balance. Conversely, PPCT did not show comparable modifications., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

While epidemiologic data exists for some ophthalmic diseases in people with Down Syndrome (DS), like strabismus and amblyopia, no studies explore the prevalence of retinal disease in people with DS on a large scale. This study utilized a literature review and exploratory epidemiology analysis to examine patterns of retinal disease in people with DS. To evaluate previous studies on physiology and/or anatomy in retinal models representing DS or in the retinas of people with DS, all relevant terms related to Down Syndrome, retina, and retinal diseases were searched in PubMed and Scopus. Data from the health platform TriNetX was then utilized to determine the prevalence and prevalence odds ratio (POR) of retinal disorders, including diabetic retinopathy and age-related macular degeneration (AMD), within the U.S. adult population with DS. The final literature review included 28 of 535 screened studies and found that a DS diagnosis was associated with atypical retinal vascularization, retinal thickening, and abnormal neuronal development. Of 55,198,979 individuals included in the population study, 97,795 (0.18%) had a recorded DS diagnosis. Compared to the population without DS, the population with DS had significantly increased PORs for any retinal diagnosis (3.78, 95% CI 3.63-3.93), for 16 of 18 recorded individual retinal diagnoses, and for 4 of 5 major diagnostic categories, including diabetic retinopathy (2.56, 95% CI 2.33-2.82) and macular degeneration (4.01, 95% CI 3.42-4.71). The conclusion is that retinal anomalies common to people with DS likely contribute to higher rates of recorded retinal disease. However, future studies should evaluate this relationship., Competing Interests: Competing interests: KT: Genentech (speaker’s bureau, consultant), Zeiss (grant), Eyepoint (consultant), Apellis (consultant), Regenxbio (consultant). Rishi Singh reports personal fees from Genentech/Roche, Alcon, Novartis, Regeneron, Asclepix, Gyroscope, Bausch and Lomb, and Apellis. Katherine Talcott reports personal fees from Genentech/Roche, Apellis, and EyePoint and research fees from Zeiss and Regenxbio., (© 2024. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Background/aims: Recent decades have seen significant advances in both structural and functional testing of retinal disease. However, the current clinical value of specific testing modalities, as well as future trends, need to be clearly identified in order to highlight areas for further development in routine care and clinical trials., Methods: We designed a modified two-round Delphi study to obtain the opinion of a multidisciplinary group of 33 international experts involved in the field of retinal disease management/research to determine the level of agreement and consensus regarding the value and performance of specific structural and functional testing methods for retinal disease. On a Likert scale, a median of 1-2 indicated disagreement with the statement, and 5-6 indicated agreement with the statement. An IQR of ≤2 indicated consensus in the responses. Several questions also allowed comments on responses., Results: There was overall agreement that structural testing currently predominates for detection and monitoring. There was moderate agreement that functional testing remains important and will continue to do so in the future because it provides complementary information. Certain respondents considered that properly designed and applied psychophysical tests are as reliable and repeatable as structural observations and that functional changes are the most important in the long run. Respondents considered future care and research to require a combination of structural and functional testing with strong consensus that the relative importance will depend on disease type and stage., Conclusion: The study obtained important insights from a group of international experts regarding current and future needs in the management of retinal disease using a mix of quantitative and qualitative approaches. Responses provide a rich range of opinions that will be of interest to researchers seeking to design tests for future patient care and clinical trials., Competing Interests: Competing interests: The study was funded and facilitated by Alliance Pharmaceuticals Ltd. The authors received financial payment from the funder, but the study objectives, design, analysis and subsequent write-up was entirely undertaken by the authors. Alliance Pharmaceuticals Ltd played no part in the study design, the formulation of the questions, or the analysis and respondents were not paid for their responses. The online questionnaires were administered by the funder and the data curated by Alliance staff to render the authors blind to the identity of respondents until final analysis., (© Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ Group.)

Purpose: The purpose of this study was to analyze the retinal sensitivity under photopic, mesopic, and scotopic conditions in a cohort of patients affected with KCNV2-associated retinopathy., Methods: Cross-sectional evaluation of molecularly confirmed individuals was conducted. Data were obtained prospectively. The main microperimetry parameters analyzed were mean sensitivity (MS) and number of floor effects (noF) in the central macular zone (CMZ; central 6 degrees) and peripheral macular zone (PMZ; 6 to 10 degrees). Interocular symmetry was also assessed., Results: The MS under photopic, mesopic, and scotopic conditions were, respectively, 20.2 (6.3-29.5, ±6.5), 16.2 (3.7-23.1, ±5.3), and 1.3 (0-13.3, ±3.8) in the right eyes, and 21.1 (9.8-28.9, ±6.1), 16.8 (9.6-23.5, ±4.0), and 1.1 (0-12.4, ±3.5) in the left eyes. MS was highly symmetric between eyes (Pearson correlation coefficient) in photopic (r = 0.96, P < 0.0001), mesopic (r = 0.9, P < 0.0001), and scotopic (r = 0.98, P < 0.0001) testing conditions. MS was also highly symmetric (Pearson coefficient) in the photopic CMZ (r = 0.97, P = 0.0001) and PMZ (r = 0.95, P = 0.0002), mesopic CMZ (r = 0.94, P = 0.0003), and PMZ (r = 0.92, P = 0.0009), and scotopic CMZ (r = 0.99, P < 0.0001) and PMZ (r = 0.99, P < 0.0001).The mean noF (± standard deviation [SD]; range) was 4.6 (SD = ±5.3, range = 0-16) in photopic, 5.0 (SD = ±5.4, range = 0-15) in mesopic, and 23.2 (SD = ±8.6, range = 0-28) in scotopic conditions. Subject 01-041 was the only affected individual in which no floor effect was found. Simple linear regression revealed a significant inverse relationship between age and MS, and a direct relationship between age and noF., Conclusions: KCNV2-associated retinopathy is a largely symmetric disease from a functional perspective. Despite the early decrease in scotopic retinal sensitivity, our data suggests a large window for photoreceptor rescue with novel treatments, such as gene therapy.

Age-related macular degeneration (AMD) is a common cause of vision loss with few effective treatments available to prevent retinal degeneration long-term. Challenges associated with treatment development are due in part to a lack of understanding of the mechanisms underlying disease onset. However, diseases of ageing are challenging to model. Here, features of diurnal fish models that are beneficial for studying ageing retinal diseases are highlighted, and the unique characteristics of ageing zebrafish, turquoise killifish, and medaka retinas are summarised., (© 2025. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

Background: This study aimed to explore retinal changes in Bietti crystalline dystrophy (BCD) patients, including retinal metabolism, blood flow, vascular remodeling, and pupillary light reflex (PLR) abnormalities., Methods: This cross-sectional study included 120 eyes from BCD patients and 120 eyes from healthy controls, utilizing a multimodal imaging system (MEFIAS 3200, SYSEYE, Chongqing, China) to evaluate retinal oxygenation, blood flow, vascular structure, and PLR. Measurements included oxygen saturation, blood flow velocity, vessel diameters, and pulsatility metrics. PLR parameters were assessed under specific light stimuli., Results: BCD patients demonstrated significantly higher retinal oxygen saturation and content, but lower oxygen utilization and metabolism compared to controls, with more pronounced declines in those over 40 years old. Vascular parameters revealed smaller external diameters and larger lumen diameters, indicating vascular remodeling. Retinal blood flow was lower, while the resistivity index was higher in BCD patients. Additionally, PLR abnormalities were noted, including reduced constriction amplitude, pupil constriction ratio, constriction duration, and maximum constriction velocity, along with prolonged latency were observed in BCD patients., Conclusion: BCD patients had significant retinal and vascular changes, along with PLR impairments, especially in patients over 40. More targeted interventions should be focused in future research., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: To perform a quantitative multimodal evaluation in 25 patients with primary antiphospholipid syndrome (PAPS) without ocular complaints and to compare them with 25 healthy individuals., Methods: A structural and functional ophthalmological evaluation using optical coherence tomography angiography (OCTA) and microperimetry (MP) exam in 25 patients with PAPS, followed at a tertiary rheumatology outpatient clinic, was performed. All ophthalmologic manifestations were documented and subsequent statistical analysis was performed for comparative purposes, with significance set at p < 0.05., Results: We included 100 eyes of 50 subjects (25 patients with PAPS without ocular complaints and 25 healthy individuals). Quantitative OCTA assessment revealed significant differences between PAPS patients and controls in both the superficial vascular complex (SVC) and deep vascular complex (DVC) using high-speed protocol, as well as in the SVC in the high-resolution protocol. Analysis of the foveal avascular zone (FAZ) parameters showed a larger area of FAZ in the DVC in PAPS patients using the high-speed method compared to the control group ( p = 0.047). In MP quantitative analysis, the PAPS group exhibited lower central ( p = 0.041) and global ( p < 0.001) retinal sensitivity compared to the control group, along with sectoral differences, except in the inferior sector., Conclusions: PAPS patients present lower vascular density and retinal sensitivity compared to the control group, even in patients without paracentral acute middle maculopathy (PAMM). Our findings underscore the significance of ocular evaluation beyond symptomatic assessment in these patients., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: Ocular ischemic syndrome can be the first and only hint of life-threatening carotid artery disease. The early recognition of carotid stenosis-related retinal signs, as well as the comprehension of the pathophysiology behind retinal changes could become relevant for physicians to predict the risk of stroke. The aim of this study is to assess the carotid artery disease-induced early structural retinochoroidal changes by means of swept-source optical coherence tomography (SS-OCT)., Methods: A prospective observational study was conducted in 72 eyes with carotid stenosis. According to the degree of stenosis, the participants were divided into a normal group (34 eyes), a mild-moderate stenosis group (22 eyes), a severe stenosis group (16 eyes). SS-OCT and OCTA were performed to scan macular fovea. Central macular thickness (CMT), subfoveal choroidal thickness (SCT) and foveal avascular zona (FAZ) area were the major measurements for our study., Results: CMT was significantly thicker in group 3 when compared to group 2 and 1. SCT was significantly thinner in group 3 vs group 1, being thicker in group 2 when compared to group 1. No significant differences were obtained when comparing FAZ in the superficial and middle capillary plexus although it was significant when comparing the FAZ in the deep capillary plexus between group 1 and 3., Conclusion: internal carotid artery stenosis greater than 70% leads to a significant increase in CMT and a decrease in SCT prior the development of clinical findings of ocular ischemia syndrome., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Static automated perimetry (SAP) remains a mainstay of functional assessment of the visual field in diseases of the visual pathway, such as glaucoma and age-related macular degeneration. The fundamental psychophysical task of responding to stimuli of different levels of contrast has remained minimally changed since its inception in the 1980s, and this is potentially the root of several unresolved issues involving the technique. Enduring issues include the optimisation of SAP parameters for maximising defect detection, the influence of subjective behaviour on the response, structure-function discordance, and ageing- and disease-related changes of the visual pathway. Addressing these issues has been a focus of our research program and is the subject of this manuscript. We will review some of the basic psychophysical principles and methods that have contributed to the development of SAP and their contributions to its output measurements. Parameters that are interrogated include stimulus size and background luminance and their modification to improve defect defection in glaucoma and age-related macular degeneration. We propose frameworks for optimising testing parameters and leveraging the results for changing clinical care. In our pursuit of optimising the structure-function relationship in the eye, several areas of research have been developed and explored, including: the reconciliation of subjective responses in perimetry; by minimising sources of biases, such as Method of Limits we have been able to equate static and kinetic perimetry outputs in relation to underlying structural loci. This also formed the basis for our clustering framework, which groups together statistically similar structural and functional test locations to maximise structure-function concordance. Throughout the manuscript, we review the scientific underpinnings of clinical measurements, framing application into real-world patients to improve clinical practice., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Purpose: To study the association of retinopathy with vision-related quality of life in patients with blood dyscrasias., Settings and Design: A cross-sectional observational study was conducted at a university-based hospital., Methods: Two hundred patients with blood dyscrasias underwent comprehensive ocular examination, including dilated fundus examination. Vision-related quality of life was assessed using the National Eye Institute Visual Functioning Questionnaire-25 (NEI-VFQ-25)., Results: Retinopathy was observed in 99 out of 200 patients (49.50%) with blood dyscrasias. The most common retinal findings were venous tortuosity with dilation (31.70%), intraretinal hemorrhages (27.88%), soft exudates (12.50%), white-centered hemorrhages (12.50%), and arteriolar attenuation (12.50%). A significant association was found between retinopathy in blood dyscrasias and NEI-VFQ subscales of general vision ( P value: 0.01**), near activities ( P value: 0.04*), distance activities ( P value: 0.01**), mental health ( P value: 0.01**), color vision ( P value: 0.01**), peripheral vision ( P value: 0.01**), role difficulties ( P value: 0.01**), and social functioning ( P value: 0.01**)., Conclusion: The study highlights the prevalence of retinopathy in blood dyscrasia patients and its detrimental impact on vision-related quality of life. Regular fundus examinations are imperative for early detection and management of retinopathy to prevent significant visual impairment. Further research is warranted to elucidate underlying mechanisms and improve clinical management strategies., (Copyright © 2024 Indian Journal of Ophthalmology.)

Background: Shared anatomical, histological and physiological pathways between the kidney and the eye are well documented, demonstrating that ocular manifestations serve as valuable prognostic indicators in chronic kidney disease (CKD), providing insights into disease severity and progression. Through non-invasive imaging modalities such as retinal fundus photography, early retinal microvascular alterations indicative of CKD progression can be detected, enabling timely intervention and risk stratification. However, the conclusions drawn from the review primarily demonstrate a strong or independent association between glaucoma or retinopathy and CKD., Results and Conclusion: Multiple shared pathophysiological events have been implicated in the pathogenesis in the alterations at eye and kidney including renin-angiotensin-aldosterone system. Patients with CKD are more likely to experience glaucoma, age-related macular degeneration, cataracts, uremic optic neuropathy and retinopathy. To establish the role of ocular manifestations in predicting CKD progression, it is crucial to address the limitations of correlation and explore the underlying causality with further research on common disease pathogenesis. Additionally, specific methods for risk stratification based on retinal changes, the effectiveness of timely interventions, and the development of predictive tools combining ocular and renal data are of utmost importance research topics to enlighten the bidirectional causality., (© 2024 Stichting European Society for Clinical Investigation Journal Foundation. Published by John Wiley & Sons Ltd.)

This review summarizes the existing information on the concentration of H + (pH) in vertebrate retinae and its changes due to various reasons. Special features of H + homeostasis that make it different from other ions will be discussed, particularly metabolic production of H + and buffering. The transretinal distribution of extracellular H + concentration ([H + ] o ) and its changes under illumination and other conditions will be described in detail, since [H + ] o is more intensively investigated than intracellular pH. In vertebrate retinae, the highest [H + ] o occurs in the inner part of the outer nuclear layer, and decreases toward the RPE, reaching the blood level on the apical side of the RPE. [H + ] o falls toward the vitreous as well, but less, so that the inner retina is acidic to the vitreous. Light leads to complex changes with both electrogenic and metabolic origins, culminating in alkalinization. There is a rhythm of [H + ] o with H + being higher during circadian night. Extracellular pH can potentially be used as a signal in intercellular volume transmission, but evidence is against pH as a normal controller of fluid transport across the RPE or as a horizontal cell feedback signal. Pathological and experimentally created conditions (systemic metabolic acidosis, hypoxia and ischemia, vascular occlusion, excess glucose and diabetes, genetic disorders, and blockade of carbonic anhydrase) disturb H + homeostasis, mostly producing retinal acidosis, with consequences for retinal blood flow, metabolism and function., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Purpose: To present a case of autosomal recessive bestrophinopathy (ARB) complicated by intraretinal fluid and subretinal fluid, successfully managed with navigated subthreshold micropulse laser (SML) treatment., Obervations: A 25-year-old female was referred to our clinic by her ophthalmologist due to a diagnosis of reduced vision in both eyes. The patient presented with a visual acuity of 0.9 logMAR in both eyes. Structural optical coherence tomography (OCT) revealed bilateral intraretinal fluid (IRF) and subretinal fluid (SRF), while OCT angiography (OCT-A) demonstrated bilateral macular neovascularization (MNV). Following the initiation of intravitreal therapy with anti-VEGF agents, administered via monthly injections for one year, we observed no improvement in visual acuity or resolution of IRF and SRF. SML treatment was administered to both eyes in the macular region. At the 3-month follow-up visit, OCT revealed complete resolution of IRF in the right eye and partial resolution of IRF in the left eye, and best-corrected visual acuity (BCVA) improved from 0.9 logMAR to 0.7 logMAR., Conclusions and Importance: In our case, SML emerges as a promising treatment modality for patients with ARB complicated by MNV who exhibit poor response to anti-VEGF therapy. However, further prospective studies with longer follow-up periods and larger cohorts are warranted to confirm the optimal treatment strategy in ARB., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a multisystemic disease, i.e., influencing various organ systems beyond the liver and, thus, contributing to comorbidities. Characterized by excessive fat accumulation in the hepatocytes, MASLD is frequently linked to metabolic syndrome components, such as obesity, insulin resistance, dyslipidemia, and hypertension. Therefore, exploring the intricate connection between MASLD and other organ systems, including the eyes, seems to be essential. In this context, retinopathy has been investigated for its potential association with MASLD, since both conditions share common pathogenetic pathways. Chronic low-grade inflammation, oxidative stress, insulin resistance, and endothelial dysfunction are only some of those mechanisms contributing to disease progression and, possibly, determining the bidirectional interplay between the liver and retinal pathology. This narrative review aims to summarize data concerning the multisystemicity of MASLD, primarily focusing on its potential association with the eyes and, particularly, retinopathy. Identifying this possible association may emphasize the need for early screening and integrated management approaches that address the liver and eyes as interconnected components within the framework of a systemic disease. Further research is necessary to delineate the precise mechanisms and develop targeted interventions to mitigate the bidirectional impact between the liver and eyes, aiming to reduce the overall burden of disease and improve patient outcomes.

Aims: To investigate the effect of preretinal tractional structures (PTS) and posterior scleral structures (PSS) on myopic traction maculopathy (MTM) progression., Methods: This retrospective cohort study included 185 fellow highly myopic eyes of 185 participants who underwent surgery for MTM. PTS included epiretinal membrane, incomplete posterior vitreous detachment and their combination. PSS included posterior staphyloma and dome-shaped macula (DSM). The MTM stage was graded according to the Myopic Traction Maculopathy Staging System. Optical coherence tomography was used to identify MTM progression, defined as an upgrade of MTM. The Kaplan-Meier method with log-rank test was used to assess MTM progression over the 3-year follow-up period. Risk factors for progression were identified using Cox regression analysis., Results: MTM progression was observed in 48 (25.9%) eyes. Three-year progression-free survival (PFS) rates for eyes with PTS, staphyloma and DSM were 53.7%, 58.2% and 90.7%, respectively. Eyes with PTS and staphyloma exhibited lower 3-year PFS rates than those without PTS or staphyloma ( P log-rank test =0.002 and <0.001), while eyes with DSM had a higher 3-year PFS rate than eyes without DSM ( P log-rank test =0.01). Multivariate Cox regression analysis showed that PTS (HR, 3.23; p<0.001) and staphyloma (HR, 7.91; p<0.001) were associated with MTM progression, whereas DSM (HR, 0.23; p=0.046) was a protective factor., Conclusion: Both PTS and PSS play a critical role in the progression of MTM. Addressing these factors can aid in the management of MTM., Competing Interests: Competing interests: LL reported research grants from the Innovative Clinical Technique of Guangzhou (grant 2024P-GX02) during the conduct of the study. SC reported research grants from the Science and Technology Program of Guangzhou, China (grant 202201020362 and grant 2024A03J00515) and the Lumitin Vision to Brightness Research Funding for the Young and middle-aged Ophthalmologists (grant BCF-KH-YK-20230803-03) during the conduct of the study., (© Author(s) (or their employer(s)) 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

Background: Optic disc pit (ODP) is a rare congenital anomaly of optic nerve head and is associated with maculopathy. Scleral patch graft (SPG) as a therapeutic option is recently advocated., Methods: This is a retrospective analysis of 54 patients with ODP maculopathy who were followed up for 12 months post-operatively. The parameters assessed included best corrected visual acuity (BCVA) in LogMAR chart and central macular thickness (CMT) at baseline and at 1-, 3- and 12-months post-surgery., Results: The mean age of presentation was 36.36 ± 15.69 years [Median 36, Interquartile range (IQR) 14.75]. 51.85% were female. 53.7% were operated in left eye. The average period of follow-up was 15.37 ± 2.34 months after surgery. The mean presenting BCVA in LogMAR chart was 0.66 ± 0.37 (Median 0.6, IQR 0.4) and average CMT was 677.46 ± 251.57µ (Median 674, IQR 276). On follow up over 1, 3 and 12 months, average BCVA were 0.74, 0.58 and 0.49 LogMAR respectively. The improvement in final BCVA was statistically significant (p = 0.016). The CMT at the corresponding follow-up periods were 461.26 ± 238.3µ (Median 435, IQR 220.5), 362.68 ± 125µ (Median 367, IQR 141) and 287.36 ± 121.9µ (Median 266, IQR 139.5). Decrease in CMT was significant at all follow up visits (p < 0.001). On assessing OCT Biomarkers, Subretinal fluid (57.4%), Intraretinal Fluid (57.4%), macular schitic cavity (79.63%), Outer Lamellar Macular hole (31.48%), Pachychoroid vessels (35.19%), Outer Retinal Layer Disruptions (24.07%) were present in various proportions on presentation. After surgery over the follow-up, retinal fluid and schitic cavities were observed to get regressed over time. Outer Lamellar Macular holes showed excellent regression after surgery over a period of time. On final visit after 1 year of surgery, complete anatomical success in terms of OCT interpretation was achieved in 16 cases (29.63%). Partial anatomical success was achieved in further 24 cases (44.44%). At least some anatomical improvement was seen in 49 patients while in 3 patients it remained almost unaltered and 2 cases worsened. Successful visual rehabilitation was achieved in 45 patients (83.33%) CONCLUSIONS: Detailed OCT based and functional analysis in this study with long-term follow-up helps to entitle the importance of scleral patch graft based surgical procedure in managing this challenging surgical condition. This article caters the largest case series with meticulous analyses of the ODP Maculopathy surgically managed using autologous scleral plug., Competing Interests: Declarations. Ethics approval and consent to participate: Written Informed consent was collected individually from every participant in the study. The study was approved by institutional Ethics Committee, Aravind Eye Hospital, Madurai, India (registered under Government of India). Consent for publication: Not applicable. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Purpose: To observe the clinical features of the paracentral acute middle maculopathy (PAMM) and to investigate the changes in perfusion density of superficial capillary plexus (SCP) and deep capillary plexus (DCP) in PAMM by optical coherence tomography angiography (OCTA)., Methods: Twelve patients (12 eyes) diagnosed with PAMM and 13 healthy participants (13 eyes) were enrolled. The clinical features of 12 PAMM patients were recorded. The perfusion density of SCP and DCP in the parafovea and perifovea (divided into Temporal, Superior, Nasal, and Inferior) was measured by OCTA in PAMM and healthy eyes. Automated macular maps, including SCP and DCP, were also performed., Results: The mean age of patients was 48.08 (range 14-72) years. The best corrected visual acuity (BCVA) was from finger count (FC) to 1.0. Risk factors included hypertension, diabetes mellitus, COVID-19, etc. The patients had signs of retinal vascular disease except for one patient with isolated PAMM. A spectral-domain OCT image of the PAMM eye showed hyperreflectivity in the inner nuclear layer (INL). Compared with healthy eyes, SCP and DCP in PAMM eyes were significantly reduced in all sectors (all p < 0.05) in the parafovea and perifovea. The average perfusion density of SCP in parafovea and perifovea in PAMM eyes were 46.94±4.34% vs 52.21±3.98 % (p = 0.002), 44.01±3.95% vs 50.51±3.14 (p = 0.000) in healthy eyes. The average perfusion density of DCP in parafovea and perifovea in PAMM eyes were 51.22±4.16% vs 57.15±3.87 % (p = 0.002), 47.375±6.23% vs 54.27±5.33 % (p = 0.002) in healthy eyes., Conclusion: PAMM often accompanies concurrent ocular and systemic diseases. OCTA results confirm that the perfusion density of SCP and DCP in the parafovea and perifovea significantly reduced in PAMM patients., (Copyright © 2024. Published by Elsevier B.V.)

Obesity and retinal microvasculature dysfunction are linked and impact visual acuity. The aim of this study was to determine the relationship between the HOMA-IR score and the presence of vascular dysfunction (capillary perfusion and flux index) of the optic nerve head (ONH) of the retina in obese patients and to determine its diagnostic performance to predict vascular dysfunction. A case-control study was conducted in 2022 involving individuals from obese and non-obese groups. Insulin resistance was measured using the Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) score using the levels of insulin and fasting glucose. Optical coherence tomography angiography (OCT-A) was performed to evaluate the flux index and capillary perfusion of ONH. The correlation between HOMA-IR, flux index, and capillary perfusion was assessed using Pearson's correlation, and the diagnostic performance of HOMA-IR, including sensitivity, specificity, and the area under the curve (AUC), was measured. Logistic regression was used to identify the association between the HOMA-IR cutoff score with the presence of retinal microvascular dysfunction. A total of 80 individuals were included from each obese and non-obese group. The HOMA-IR score showed significant negative correlations with the perfusion of the superior ( p  < 0.001), inferior ( p  < 0.001), and outer ( p  = 0.008) regions of the retinal of ONH. For the flux index, the HOMA-IR score had significant negative correlations with the superior ( p  = 0.001), inferior ( p  < 0.001), nasal ( p  = 0.003), and outer ( p  = 0.035) regions of ONH of the retina. The receiver operating characteristic (ROC) curve analysis for the HOMA-IR score at a cutoff value of 5.51 demonstrated an area under the curve (AUC) of 0.819, with a 95% confidence interval (CI) ranging from 0.727 to 0.912, suggesting its effectiveness in detecting vascular dysfunction. Multivariate logistic regression revealed a significant association between the HOMA-IR cutoff score of 5.51 with capillary perfusion of the superior ( p  = 0.005) and nasal region ( p  = 0.043), as well as the flux index of the inferior ( p  = 0.013) and outer ( p  = 0.022) regions of the ONH. These findings suggest that HOMA-IR is a promising biomarker for predicting retinal microvascular dysfunction in obese patients., Competing Interests: The authors declare that there is no conflict of interest., (© 2024 The Author(s).)

Introduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams., Clinical Case: The case was a 28-year-old male with the mutations c.626C > T (p.Pro209Leu) and c.1317T > G (p.Tyr439*). Bilateral atrophy of outer retinal layers and retinal pigmented epithelium were observed, resembling a bull's eye maculopathy. Visual acuity, as well as contrast sensitivity dropped with mesopic conditions. He presented more difficulties in differentiating colors within blue-yellow range, and some degree of halos were detected. Multifocal electroretinogram detected little retinal function, and visual field detected a full scotoma. He referred poorer quality of life due to emotional wellbeing, more than to difficulties in reading or accessing information., Conclusion: Although rare, nephronophthisis 12 may be caused by genetic mutations that associate severe retinopathy., Competing Interests: Declarations. Conflict of interest: All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript. Informed consent: Informed consent was obtained the participant included in the study. Human rights: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Electrophysiological examinations are used in ophthalmology to determine the functionality of the neurons of the visual pathway. As electrophysiological examinations are independent of the subjective perception and response of the patient, they are considered to be objective functional diagnostics of vision. Electroretinography (ERG) is used to examine the retina (especially the photoreceptors), electro-oculography (EOG) is used to examine the functionality of the retinal pigment epithelium and visually evoked potentials (VEP) are used to evaluate the integrity of the entire visual pathway. Abnormalities in electrophysiological responses should always be interpreted in the context of other functional and morphological findings., Competing Interests: Einhaltung ethischer Richtlinien. Interessenkonflikt: Gemäß den Richtlinien des Springer Medizin Verlags werden Autoren und Wissenschaftliche Leitung im Rahmen der Manuskripterstellung und Manuskriptfreigabe aufgefordert, eine vollständige Erklärung zu ihren finanziellen und nichtfinanziellen Interessen abzugeben. Autoren: L. Kühlewein: A. Finanzielle Interessen: Tistou und Charlotte Kerstan Stiftung, Novartis, Rhythm: alle nicht im Zusammenhang mit dieser Arbeit und alle im Sinne von Geldzuwendungen für Forschungsprojekte. – Novartis, Rhythm: Honorar und Reisekostenerstattung. – B. Nichtfinanzielle Interessen: Angestellte Fachärztin für Augenheilkunde, Department für Augenheilkunde, Medizinische Fakultät, Eberhard Karls Universität Tübingen | – Mitgliedschaft: DOG. K. Stingl: A. Finanzielle Interessen: EURETINA Kongess 2023 Reisekostenerstattung: Okuvision GmbH; UKE Augenklinik Hamburg 2022 Honorar für Vorträge; Eurofins Humagenetik webinar 2024 Honorar für Vorträge; Ärztekammer Westfalen-Lippe 2021–2024 Honorar für Vorträge; EVICRnet 2021 Honorar fürs Erstellen von Webinaren; FOMF 2024 Honorar für Vorträge; Bundesministerium für Arbeit und Soziales 2024 Honorar für Vorträge. – Beraterin im Rahmen von Dienstaufgabe am Universitätsklinikum Tübingen für Novartis, ProQR, Therapeutics ViGeneron, Santen, Janssen, Lundbeck, THEA. – B. Nichtfinanzielle Interessen: Angestellte Oberärztin (Augenärztin) an der Universitäts-Augenklinik Tübingen | Mitgliedschaften: DOG Mitglied & Sprecherin der Sektion Genetik, ISCEV, Expert Committee member for Retinal Dystrophies in EVICR.net. Wissenschaftliche Leitung: Die vollständige Erklärung zum Interessenkonflikt der Wissenschaftlichen Leitung finden Sie am Kurs der zertifizierten Fortbildung auf www.springermedizin.de/cme . Der Verlag: erklärt, dass für die Publikation dieser CME-Fortbildung keine Sponsorengelder an den Verlag fließen. Für diesen Beitrag wurden von den Autorinnen keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Purpose: To describe the clinical and genetic features of Korean patients with peripheral retinal flecks unrelated to aging., Methods: A retrospective analysis was conducted on the clinical characteristics of patients with symmetric peripheral retinal flecks. Age-related deposits such as reticular pseudodrusen were excluded, as well as secondary deposits related to intraocular inflammation, tumor, and drug toxicity. Multimodal imaging, electrophysiological examinations, and genetic testing were analyzed., Results: A total of 10 patients (two men and eight women) with bilateral peripheral flecks were enrolled in this study. A mean age at diagnosis was 30.5 ± 19.6 years (range, 4-59 years). Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were found in five patients, and one patient was diagnosed with retinopathy related to Alport syndrome due to a pathogenic variant in COL4A5. Although not genetically confirmed, one case associated with nanophthalmos and another case showing chorioretinal mottling in a carrier of ocular albinism have been identified. In one patient, genetic testing also revealed unknown causes. The mean logarithm of the minimum angle of resolution initial visual acuity was 0.12 ± 0.18 and 0.07 ± 0.18 in right and left eyes, respectively. Night blindness was reported by four patients (40%), with three showing decreased or delayed rod response in electroretinogram, particularly those with RDH5 mutations. Differences in the deposit layers and the patterns of flecks were observed on multimodal imaging., Conclusions: In the study population, we observed various causes and clinical differences in the retinal fleck patterns among Koreans, including RDH5-related fundus albipunctatus and Alport syndrome. Despite reports of night blindness symptoms in some cases, all patients demonstrated satisfactory corrected visual acuity.

Purpose: PRPH2-associated retinal diseases (PARD) result from pathogenic PRPH2 variants, primarily affecting photoreceptor outer segments and retinal pigment epithelium. The focus of this article is to review and discuss the phenotyping of PARD subtypes., Design: A systematic review., Methods: The review followed PRISMA 2020 guidelines with searches on PubMed, Medline, Web of Science, Google Scholar, and Cochrane Library. Eligible studies were those which discussed molecularly confirmed PARD or described associated diseases such as butterfly pattern dystrophy., Inclusion: cross-sectional, cohort, case-control studies, book chapters., Exclusion: non-English, conference papers, non-peer-reviewed, or non-full text articles., Results: PARD is responsible for 25% of pattern dystrophy and up to 5% of inherited retinal dystrophies. There is clear evidence of phenotypic variability between individuals carrying the same pathogenic variant. Fundus autofluorescence, fluorescein angiography, optical coherence tomography, while in research adaptive optics reveal detailed phenotypic characteristics, notably in retinal pigment epithelium changes and photoreceptor disruption. The phenotypic of PARD variability presents diagnostic challenges, with phenotypic features often overlapping with other retinal diseases including age-related macular degeneration, Stargardt disease, and retinitis pigmentosa., Conclusions: This review emphasizes revising diagnostic criteria by incorporating more recent imaging techniques and confirming diagnosis with the use of genetic testing. Understanding phenotypic diversity and intrafamilial variability in PARD is crucial for developing new treatments and for patient prognosis and future research should focus on larger cohorts studying genotype-phenotype correlations., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Purpose: To report the long-term disease course of pentosan polysulfate (PPS) maculopathy following drug cessation., Design: Single-institution, prospective case series., Methods: 23 eyes of 12 participants seen at the Emory Eye Center with a diagnosis of PPS maculopathy were included in our study. Participants were enrolled between December 1, 2018, and December 1, 2019, and data were collected annually for four years., Main Outcomes and Measures: Changes in visual function and retinal structure were the primary outcomes measured. Visual function was assessed using Early Treatment Diabetic Retinopathy Study (ETDRS) best-corrected visual acuity (BCVA), ETDRS low-luminance visual acuity (LLVA), Minnesota low-vision reading (MNREAD) performance, contrast sensitivity, mesopic and scotopic microperimetry, and dark adaptometry. Patient reported outcomes were assessed with the National Eye Institute Visual Function Questionnaire (NEI-VFQ-39) and Low Luminance Questionnaire (LLQ). Structural outcomes included the presence of complete retinal pigment epithelium and outer retinal atrophy (cRORA), atrophic lesion size (in mm 2 ), macular central subfield thickness (CST), and subfoveal choroidal thickness (SFCT)., Results: Of the 12 participants, 11 (91.7%) were female, with a median age at enrollment of 58 years. The median ETDRS BCVA letter score at baseline was 83, with a median change of -5 letters over 4 years (P = 0.005). The median 4-year change in mesopic microperimetry average threshold and percent reduced threshold was -5.4 dB (P = 0.003) and 48.6% (P = 0.004), respectively. MNREAD performance (assessed at 2 and 4 years) declined across all measures, with a median maximum reading speed change of -21 words per minute (P = 0.007). NEI-VFQ-39 and LLQ composite scores significantly decreased over 4 years. At baseline, 9 eyes (39%) had macular cRORA. By the study's end, 5 of the remaining eyes (35.7%) developed new-onset cRORA. The median linearized growth rate of atrophic lesions was 0.23 mm/year. The median 4-year change of CST and SFCT was -7.0 µm (P = 0.055) and -22.0 µm (P = 0.610), respectively., Conclusion: This prospective study demonstrates continued progression of broad-ranging functional and structural deficits in PPS maculopathy long after drug cessation. These findings should inform PPS prescribing patterns, patient counseling, and disease monitoring strategies., (Published by Elsevier Inc.)

The unique nature of the retinal microvasculature that permits non-invasive visualization has garnered interest as a potential method for detecting microvascular alterations indicative of systemic diseases. This concept, supported by advancements in imaging technologies, has been increasingly validated by studies linking retinal microvasculature with systemic conditions such as diabetes, hypertension, and cerebrovascular disease. Structural changes in the retinal microvasculature are associated with cardiovascular risk factors, metabolic diseases, and are significant predictors of systemic hypertensive damage and mortality. Given that most systemic diseases present life-long burdens and complications if undetected or untreated, the development of diagnostic tools like retinal vascular imaging becomes important for early detection, monitoring of disease progression, and facilitating timely interventions. Technological advancements have enabled objective and accurate quantification of retinal microvascular characteristics. We consolidate current literature on retinal vascular changes across various systemic health conditions, including metabolic diseases, cerebrovascular diseases, pregnancy complications, systemic inflammatory conditions, leukemia, human immunodeficiency virus infection, and COVID-19. We also emphasizes the need for dynamic parameters, an understanding of 3-dimensional vascular architecture, and larger-scale longitudinal studies to elucidate the temporal relationship between retinal vascular changes and systemic diseases, helping shape future diagnostic and monitoring approaches., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper, (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background and Aims: Systemic sclerosis (SSc) is a systemic autoimmune disease, characterized by widespread microvasculopathy and fibrosis. Vascular and endothelial cell changes appear to precede other features of SSc. Retinal vascular analysis is a new, easy-to-use tool for the assessment of retinal microvascular function. The primary aim of this study was to investigate whether retinal microcirculation is affected in patients with SSc compared to healthy controls., Methods: Microvascular function was assessed non-invasively measuring flicker-light induced vasodilation of retinal arterioles (FIDart%). In addition, FID of retinal venules (FIDven%), central retinal arteriolar and venular equivalents (CRAE and CRVE), and measurements of flow-mediated vasodilation (FMD) of the brachial artery, pulse wave velocity (PWV) and pulse wave analysis were obtained. Patients with SSc were prospectively enrolled in the study (n = 40, mean age 56 ± 11 years, females 73 %) and compared with age- and sex-matched healthy controls (HC, n = 40; mean age 59 ± 15 years, females 73 %)., Results: Patients with SSc showed significant impairment of retinal microvascular function compared to age- and gender-matched HC (FIDart%: 2.23 ± 2.0 % vs. 3.1 ± 1.9 %, respectively, p = 0.04). FMD and PWV were not significantly different between the groups. Impaired retinal microvascular function was associated with SSc disease duration., Conclusion: Our study shows a significant impairment of retinal microvascular function in patients with SSc. Because this association seems to be independent of CV risk and dependent on disease duration, retinal vessel analysis may have the potential to serve as a tool for risk assessment and prognosis., Competing Interests: Declaration of competing interest NL declares fees from Alnylam and Pfizer. KB, VR, DN, TH and IS have no conflict of interest related to the topic of the paper. MPN declares speaker fees by Vifor Pharma and AstraZeneca, congress travel support by Pfizer and consultancy fees from Boehringer Ingelheim and Pierre Fabre, all unrelated to this article. CM received speaker and/or consultancy fees from Janssen-Cilag AG, Boehringer Ingelheim, MED Talks Switzerland, Medbase, Mepha, Novartis and PlayToKnow AG, and travel support for congress from Boehringer Ingelheim, all unrelated to this article. FR has not received personal payments by pharmaceutical companies or device manufacturers in the last 3 years (remuneration for the time spent in activities, such as participation as steering committee member of clinical trials and member of the Pfizer Research Award selection committee in Switzerland, were made directly to the University of Zurich). The Department of Cardiology (University Hospital of Zurich/University of Zurich) reports research-, educational- and/or travel grants from Abbott, Abiomed, Alnylam, Amarin, Amgen, Astra Zeneca, At the Limits Ltd., Bayer, Biotronik, BMS, Boehringer Ingelheim, Boston Scientific, Bracco, CM Microport, Concept Medical, CTI, Daiichi Sankyo, Edwards Lifesciences, FomF GmbH, Hamilton Health Sciences, IHF, Innosuisse, IumiraDX, Kantar, LabPoint, MedAlliance, Medcon International, Medical Education Global Solutions, Medtronic, MicroPort, Monocle, Novartis, Novo Nordisk, OM Pharma, Pfizer, Quintiles Switzerland Sarl, RecorMedical, Roche Diagnostics, Roche Pharma, Sahajanand IN, Sanofi, Sarstedt AG, Servier, Terumo Deutschland, Trama Solutions, V- Wave, Vifor, ZOLL. These grants do not impact on FR's personal remuneration. AJF declares fees from Alnylam, Amgen, AstraZeneca, Bayer, Boehringer Ingelheim, Bristol Myers Squibb, Fresenius, Imedos Systems, Medtronic, MSD, Mundipharma, Novartis, Pierre Fabre, Pfizer, Roche, Schwabe Pharma, Vifor, and Zoll, as well as grant support by Novartis, AstraZeneca and Berlin Heart unrelated to this article., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: To develop a novel system for quantifying metamorphopsia in patients with myopic traction maculopathy (MTM) and to explore the metamorphopsia pattern of MTM., Design: Observational, cross-sectional study., Methods: We designed a new system., Results: Of the 445 eyes tested, 188 (42.25%) were deemed by patients to have metamorphopsia impacting their daily lives while 257 (57.75%) were considered to have no metamorphopsia symptoms. The Amsler grid, M-CHARTS and METAVISION tests displayed sensitivities for metamorphopsia of 95.74%, 89.89% and 100%, respectively. The specificities of the Amsler grid, M-CHARTS and METAVISION tests are 100%. The metamorphopsia questionnaire and METAVISION scores were highly consistent (average intraclass correlation coefficient=0.951, p<0.001) and strongly correlated (R=0.879, p<0.001). The METAVISION score was highly correlated with the stages of MTM (R=0.837, p<0.001), whereas there was a moderate correlation between the M-CHARTS M-score and the stages of MTM (R=0.679, p<0.001)., Conclusions: Quantification of metamorphopsia is important and useful for MTM management. The METAVISION is a clinically applicable and comprehensive approach for quantifying metamorphopsia, which can be used in clinical settings., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: This study aimed to present a case of bilateral symmetric onset of acute idiopathic maculopathy after high fever with peripheral vascular occlusion., Case Presentation: A 54-year-old yellow female experienced acute binocular visual acuity decrease after 1 day of high fever, and binocular visual acuity decreased to index or anterior. OCT in the external hospital showed dome-shaped cortical detachment in the symmetrical macular area of both eyes with subretinal fluid, discontinuity in the ellipsoid zone and the chimera. The patient autonomously administered antibiotics and non-steroidal anti-inflammatory agents, including amoxicillin and ibuprofen. Following a three-day period, the patient's visual acuity demonstrated significant improvement. Additionally, macular edema demonstrated a notable reduction as indicated by optical coherence tomography, while the presence of peripheral retinal vascular occlusions was also observed on fluorescein fundus angiography. At the onset of 6 days, oral hormone therapy was given in the outside hospital, with no significant improvement in visual acuity.23 days after the onset of the disease, the patient was admitted to our hospital, and was finally diagnosed as acute idiopathic maculopathy combined with the imaging findings of FFA, ICGA and OCT. During the follow-up, the visual acuity of both eyes improved spontaneously., Conclusions: This case is a rare acute idiopathic macular lesion with bilateral involvement, accompanied by highly symmetrical peripheral retinal vascular occlusion in both eyes, which deepens our understanding of acute idiopathic maculopathy with a view to providing guidance for subsequent clinical practice., Competing Interests: Declarations Ethics approval and consent to participate This retrospective case study abided by the Declaration of Helsinki, and informed consent and ethics approvals were waived by the ethics committee of Beijing Tongren Hospital due to the study’s retrospective nature. Consent for publication  Consent to publish the case report was not obtained. This report does not contain any personal information that could lead to the identification of the patient.  Competing interests The authors declare no competing interests., (© 2024. The Author(s).)

Purpose: To evaluate the retinal vasculature in patient with internal carotid artery (ICA) stenosis and to highlight association between ICA stenosis severity and retinal vasculature changes., Methods: Seventy-five subjects were included in this prospective study. Twenty-five healthy subjects were included in the Group 1, 25 subjects with 1-49% ICA stenosis were included in the Group 2, and 25 subjects with 50-69% ICA stenosis were included in the Group 3. Visual acuity, intraocular pressure (IOP), and anterior and posterior segment examinations were performed. Macular superficial and deep capillary density, optic nerve head capillary density, and choroidal thickness data were measured using optic coherence tomography angiography., Results: There was a statistically significant difference between the three groups regarding superficial vascular density, deep vascular density, vascular density of radial peripapillary capillary and choroid thickness (p < 0.05 for all). Mean parafoveal and perifoveal area vascular density of the superficial capillary plexus was significantly lower in the Group 3 than Group 1 (p < 0.05 for all). Mean whole area vascular density of the deep capillary plexus was significantly lower in Group 3 than both groups (p < 0.05 for all). Mean parafoveal area vascular density of the deep capillary plexus was significantly lower in the Group 3 than Group 1 (p < 0.05). Mean subfoveal choroid thickness in group 3 was significantly lower in the Group 3 than both groups (p < 0.05 for all)., Conclusion: Compared to healthy controls, patients with moderate ICA stenosis revealed decreased density of superficial, deep and radial peripapillary capillary vasculature and subfoveal choroidal thickness., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Purpose: To assess the clinical and genetic characteristics of patients with Bietti crystalline dystrophy (BCD) with a focus on potential of microperimetry in monitoring macular function., Methods: A total of 208 genetically-confirmed BCD patients were enrolled in this retrospective study. The patients were categorized into subgroups based on their fundus characteristics (fovea sparing and fovea involved), optical coherence tomography (OCT) findings (presence/absence of retinal pigment epithelium [RPE] or ellipsoid zone [EZ] line at the fovea/parafovea), and genetic profiles (Mis/Mis, Tru/Mis, Tru/Tru). Fixation patterns were analyzed, and macular sensitivity (MS) parameters were compared among different groups. Longitudinal analysis was performed to calculate the annual changes in MS parameters. Correlation between genotype and phenotype were further investigated by analyzing cumulative incidence of vision impairment among different genotypic groups., Results: Patients with well-preserved RPE or EZ at the foveal/parafoveal region exhibited higher MS. Notably, there was a decline in sensitivity parameters, with a decrease of -2.193 dB/year (95% confidence interval [CI] -4.292 to -0.095, P = 0.041) at the fovea and -1.353 dB/year (95% CI -2.047 to -0.659, P < 0.001) in average sensitivity. An age-adjusted comparison of sensitivity among genotypic groups and cumulative incidence analyses showed no association between genotypic groups and vision loss., Conclusions: Microperimetry proves to be one of a credible tool for detecting macular functional changes in BCD patients. BCD patients with different genotypes may have similar disease progression.

Significance: Acute macular neuroretinopathy (AMN) is a rare disease that causes transient or permanent visual disturbance. The exact etiology remains unknown, but vascular compromise of the deep retinal capillary plexus was postulated as the main mechanism. Retinal vascular event post-coronavirus disease 2019 (COVID-19) infection is recently highlighted during the pandemic, which includes AMN., Purpose: To report a case of AMN post-COVID-19 infection., Case Report: A 24-year-old Indian woman presented with acute-onset painless bilateral central scotoma for a day. The symptom was preceded by a history of COVID-19 infection 3 weeks prior. Ocular examination revealed a near-normal visual acuity for both eyes. Fundus examination showed bilateral dull foveal reflex with mild scattered cotton wool spot and vascular tortuosity. Optical coherence tomography macula revealed a distinct short hyperreflective band involving the outer plexiform and outer nuclear layers nasal to the fovea. The Bjerrum perimetry test revealed central scotoma temporal to the fixation. Optical coherence tomography lesions and scotomas are identical and congruous in both eyes. Serial fundus photographs are captured showing the evolving changes of near-normal macula to pigmented wedge-shaped petaloid lesions around the fovea. The patient was diagnosed as bilateral AMN and treated with oral prednisolone. On subsequent follow-up, the central scotoma improved., Conclusions: This case illustrates a clear temporal and possible causal relationship of COVID-19 infection with AMN. Further studies and data are required to justify its association, but the rising cases of AMN shall be anticipated as COVID-19 infections have become endemic worldwide., Competing Interests: Conflict of Interest Disclosure: None of the authors have reported a conflict of interest., (Copyright © 2024 American Academy of Optometry.)

Purpose: To investigate the clinical, functional, and imaging characteristics in patients affected by inherited retinal diseases associated with RDH5 and RLBP1 gene variants, and to report novel genotype-phenotype correlations., Design: Retrospective single-center cohort study., Methods: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy. Medical records were reviewed to obtain data on family history and ophthalmologic examinations, including retinal imaging and full-field electroretinography (ffERG). Genotype was determined by targeted next-generation sequencing followed by confirmation and familial segregation by Sanger sequencing., Results: The median (interquartile ranges) age at baseline for the RDH5 and RLBP1 cohort was 44.6 (38.2-67.9) years and 36.9 (23.1-45.2) years, respectively. Macular atrophy (MA) was found in approximately 80% of eyes from both cohorts. The RLBP1 genotype was associated with a lower macular volume by 0.28 mm 3 (95% CI, -0.46 to -0.11; P = .005) compared to the RDH5 genotype. In both genotypic cohorts, we found a significant annual rate of macular volume loss, estimated at -0.007 mm 3 /y (95% CI, -0.012 to -0.001; P = .02), without any significant difference between the two genotypes. Three unrelated patients homozygous for the c.361C>T p.(Arg121Trp) RLBP1 variant showed minimal impairment of both the rod and cone systems function on ffERG and absence of MA., Conclusions: Progressive MA in addition to congenital night blindness can be identified in adult patients with RDH5-associated retinopathy. Vice versa, hypomorphic RLBP1 variants may cause milder retinal phenotypes rather than the typical severe rod-cone dystrophy with MA. These findings could prove beneficial to improve the prognostication of patients and help in designing future interventional trials., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Importance: Myopic maculopathy (MM) is a major cause of vision impairment globally. Artificial intelligence (AI) and deep learning (DL) algorithms for detecting MM from fundus images could potentially improve diagnosis and assist screening in a variety of health care settings., Objectives: To evaluate DL algorithms for MM classification and segmentation and compare their performance with that of ophthalmologists., Design, Setting, and Participants: The Myopic Maculopathy Analysis Challenge (MMAC) was an international competition to develop automated solutions for 3 tasks: (1) MM classification, (2) segmentation of MM plus lesions, and (3) spherical equivalent (SE) prediction. Participants were provided 3 subdatasets containing 2306, 294, and 2003 fundus images, respectively, with which to build algorithms. A group of 5 ophthalmologists evaluated the same test sets for tasks 1 and 2 to ascertain performance. Results from model ensembles, which combined outcomes from multiple algorithms submitted by MMAC participants, were compared with each individual submitted algorithm. This study was conducted from March 1, 2023, to March 30, 2024, and data were analyzed from January 15, 2024, to March 30, 2024., Exposure: DL algorithms submitted as part of the MMAC competition or ophthalmologist interpretation., Main Outcomes and Measures: MM classification was evaluated by quadratic-weighted κ (QWK), F1 score, sensitivity, and specificity. MM plus lesions segmentation was evaluated by dice similarity coefficient (DSC), and SE prediction was evaluated by R2 and mean absolute error (MAE)., Results: The 3 tasks were completed by 7, 4, and 4 teams, respectively. MM classification algorithms achieved a QWK range of 0.866 to 0.901, an F1 score range of 0.675 to 0.781, a sensitivity range of 0.667 to 0.778, and a specificity range of 0.931 to 0.945. MM plus lesions segmentation algorithms achieved a DSC range of 0.664 to 0.687 for lacquer cracks (LC), 0.579 to 0.673 for choroidal neovascularization, and 0.768 to 0.841 for Fuchs spot (FS). SE prediction algorithms achieved an R2 range of 0.791 to 0.874 and an MAE range of 0.708 to 0.943. Model ensemble results achieved the best performance compared to each submitted algorithms, and the model ensemble outperformed ophthalmologists at MM classification in sensitivity (0.801; 95% CI, 0.764-0.840 vs 0.727; 95% CI, 0.684-0.768; P = .006) and specificity (0.946; 95% CI, 0.939-0.954 vs 0.933; 95% CI, 0.925-0.941; P = .009), LC segmentation (DSC, 0.698; 95% CI, 0.649-0.745 vs DSC, 0.570; 95% CI, 0.515-0.625; P < .001), and FS segmentation (DSC, 0.863; 95% CI, 0.831-0.888 vs DSC, 0.790; 95% CI, 0.742-0.830; P < .001)., Conclusions and Relevance: In this diagnostic study, 15 AI models for MM classification and segmentation on a public dataset made available for the MMAC competition were validated and evaluated, with some models achieving better diagnostic performance than ophthalmologists.

Background: Retinal prostheses offer hope for individuals with degenerative retinal diseases by stimulating the remaining retinal cells to partially restore their vision. This review delves into the current advancements in retinal prosthesis technology, with a special emphasis on the pivotal role that image processing and machine learning techniques play in this evolution., Methods: We provide a comprehensive analysis of the existing implantable devices and optogenetic strategies, delineating their advantages, limitations, and challenges in addressing complex visual tasks. The review extends to various image processing algorithms and deep learning architectures that have been implemented to enhance the functionality of retinal prosthetic devices. We also illustrate the testing results by demonstrating the clinical trials or using Simulated Prosthetic Vision (SPV) through phosphene simulations, which is a critical aspect of simulating visual perception for retinal prosthesis users., Results: Our review highlights the significant progress in retinal prosthesis technology, particularly its capacity to augment visual perception among the visually impaired. It discusses the integration between image processing and deep learning, illustrating their impact on individual interactions and navigations within the environment through applying clinical trials and also illustrating the limitations of some techniques to be used with current devices, as some approaches only use simulation even on sighted-normal individuals or rely on qualitative analysis, where some consider realistic perception models and others do not., Conclusion: This interdisciplinary field holds promise for the future of retinal prostheses, with the potential to significantly enhance the quality of life for individuals with retinal prostheses. Future research directions should pivot towards optimizing phosphene simulations for SPV approaches, considering the distorted and confusing nature of phosphene perception, thereby enriching the visual perception provided by these prosthetic devices. This endeavor will not only improve navigational independence but also facilitate a more immersive interaction with the environment., (© 2024 International Center for Artificial Organ and Transplantation (ICAOT) and Wiley Periodicals LLC.)

Background: To describe different clinical presentations of a same NR2E3 recessive mutation in two families and within one family., Design: Interventional family study., Results: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the NR2E3 gene (IVS1-2A > C) was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up with the patient for 3 years and no new lesion developed during this period. The second case was a 13-year-old male child referred to the retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in the macula of his right eye. The genetic evaluation proved the same mutation in the NR2E3 gene as in the first case. Family history was remarkable for an uncle, an aunt, and two cousins with night blindness., Conclusion: Same NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Aims: To investigate the changes in retinal microvasculature by contemporary imaging techniques during episodes of acute decompensated heart failure (ADHF) and following recompensation compared to age-matched controls without known cardiac or retinal disease., Methods and Results: Adult patients hospitalized with a primary diagnosis of ADHF, regardless of left ventricular ejection fraction (LVEF) and treated with a minimum dose of 40 mg of intravenous furosemide or equivalent were included. Transthoracic echocardiography was conducted in all patients. Eye examinations were performed out within the initial 24 h after admission and after recompensation before discharge. All eyes underwent a general examination, including a best corrected visual acuity test, dilated fundoscopy, spectral-domain optical coherence tomography (OCT) as well as OCT angiography (OCT-A). In addition, 40 participants without documented cardiac or retinal diseases served as controls. Forty patients with ADHF (mean age 78.9 ± 8.8 years; 32% female) with a mean LVEF of 43 ± 12.8% were included. All patients were treated with intravenous diuretics for a median of 4.3 ± 2.8 days. There was a significant reduction in N-terminal pro-B-type natriuretic peptide from baseline up to discharge (10 396 [interquartile range 6410] vs. 6380 [interquartile range 3933] pg/ml, p ≤ 0.001) and inferior vena cava diameters (2.13 ± 0.4 vs. 1.63 ± 0.3 cm, p = 0.003). Compared to the control group, patients with ADHF showed on admission impaired visual acuity (0.15 ± 0.1 vs. 0.35 ± 0.1 logMAR, p < 0.001), reduced macular vessel density (18.0 ± 1.9 vs. 14.3 ± 3.6 mm/mm 2 , p < 0.001) and perfusion density (42.6 ± 3.2 vs. 35.2 ± 9.7%, p < 0.001). After recompensation, the mean overall vessel density and mean overall perfusion density were markedly increased at discharge (14.3 ± 3.6 vs. 19.7 ± 2.6 mm/mm 2 , p = 0.001, and 35.2 ± 9.7 vs. 39.2 ± 6.5%, p = 0.005, respectively). The mean diameter of the superior temporal retinal vein at admission was significantly larger compared to the control group (136 ± 19 vs. 124 ± 22 μm, p = 0.008) and decreased significantly to 122 ± 15 μm at discharge (p < 0.001)., Conclusion: This analysis revealed a remarkable reversible change in retinal microvasculature after ADHF. This could provide a valuable evidence for use of OCT-A in the assessment of overall microperfusion and haemodynamic status in patients with acute heart failure., (© 2024 The Author(s). European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Background: To evaluate the accuracy of artificial intelligence (AI)-based technology in recognizing tessellated fundus in students aged 7-14 years., Methods: A retrospective study was conducted to collect consecutive fundus photographs for visual function screening of students aged 7-14 years old in Haikou City from June 2018 to May 2019, and 1907 cases were included in the study. Among them, 949 cases were male and 958cases were female. The results were manually analyzed by two attending ophthalmologists to ensure the accuracy of the results. In case of discrepancies between the results analyzed by the two methods, the manual results were used as the standard. To assess the sensitivity and specificity of AI in recognizing tessellated fundus, a Kappa consistency test was performed comparing the results of manual recognition with those of AI recognition., Results: Among 1907 cases, 1782 cases, or 93.4%, were completely consistent with the recognition results of manual and AI; 125 cases, or 6.6%, were analyzed with differences. The diagnostic rates of manual and AI for tessellated fundus were 26.1% and 26.4%, respectively. The sensitivity, specificity and area of the ROC curve (AUC) of AI for recognizing tessellated fundus in students aged 7-14 years were 88.0%, 95.4% and 0.917, respectively. The results of test showed that that the manual and AI identification results were highly consistent (κ = 0.831, P = 0.000)., Conclusion: AI analysis has high specificity and sensitivity for tessellated fundus identification in students aged 7-14 years, and it is feasible to apply artificial intelligence to visual function screening in students aged 7-14 years., (© 2024. The Author(s).)

Background and Objective: Liver health has been reported to be associated with retinal pathology in various ways. These include deposition of retino-toxins, neovascular drive, and disruption of the blood-retina barrier. Extrahepatic synthesis of implicated molecules and hemodynamic changes in liver dysfunction are also considered. The objective was to review the current evidence for and against a hepato-retinal axis that may guide further areas of preclinical and clinical investigation., Methods: This was a systematic review. PubMed and Cochrane were queried for English language studies examining the connection between hepatic dysfunction and retinal pathology., Results: Fourteen studies were included and examined out of 604 candidate publications. The studies selected include preclinical studies as well as clinical case series and studies., Conclusions: Several liver pathologies may be linked to retinal pathology as mediated by hepatically synthesized molecules. The hepato-retinal axis may be present and further, targeted studies of the axis are warranted. [ Ophthalmic Surg Lasers Imaging Retina 2024;55:587-596.] .

Purpose: Vitamin A is a lipid-soluble compound that is critical in maintaining phototransduction. Ocular manifestations of hypovitaminosis A may present with anterior segment signs of xeropthalmia, with advanced cases also causing classic retinal and electrophysiologic changes of vitamin A deficiency retinopathy. We present a case of vitamin A deficiency retinopathy, with corresponding retinal imaging and electrophysiology, in an adult patient with celiac disease and liver fibrosis., Methods: A single case report was conducted in Toronto, Canada., Results: A 77-year-old male with known celiac disease and liver fibrosis presented progressively worsening vision noticed primarily when driving. Vision was 20/50 OD and 20/200 OS. Bitot spots were noted on anterior segment examination. Fundus photography demonstrated bilateral peripheral macular hypopigmentation and far-peripheral granular retinal hypopigmentation with focal yellow dots and hyper-pigmented deposits. Optical coherence tomography (OCT) imaging demonstrated indistinct outer retinal banding with mild outer nuclear layer thinning, focal hyper-reflective deposits, and a thin choroid bilaterally. Full-field electroretinography (ERG) testing demonstrated reduced rod-isolated and combined rod-cone response amplitudes, and multifocal ERG testing demonstrated blunted individual responses throughout the field. The patient was treated with pulse vitamin A therapy. After 6 months of therapy, ERG responses were back within reference range, and the outer retinal changes reversed; visual acuity improved to 20/30 OD and 20/40 OS., Conclusion: This case represents the classic findings of vitamin A deficiency retinopathy on fundus examination and electrophysiologic testing secondary to gastrointestinal pathology. Prompt treatment of high dose vitamin A supplementation led to improvement of full-field and multifocal ERG results, as well as reconstitution of outer retinal architecture., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Although leukemic retinopathy accounts for 80% of ocular complications in acute leukemia, its pathogenesis remains unclear. To evaluate changes in retinal and choroicapillaris and structural parameters in patients with acute leukemia, we analyzed the correlation between vascular perfusion metrics and laboratory parameters and assessed the changes after hematopoietic stem cell transplantation (HSCT)., Methods: Herein, 104 eyes of 52 patients aged 18 and above with acute leukemia were enrolled. 80 eyes of 40 healthy patients were recruited as control participants. All participants underwent optical coherence tomography (OCT) and OCT angiography (OCTA) at baseline., Results: Patients with acute leukemia had a significantly thicker ganglion cell-inner plexiform layer (GCIPL) and lower circularity index than the control participants. Post-HSCT perfusion metrics did not differ significantly, but parafoveal thickness decreased significantly. During the active phase of acute leukemia, lower platelet levels were associated with significant GCIPL thickening and increased foveal avascular zone and perimeter. D-dimer levels positively correlated with GCIPL thickness., Conclusion: Patients with acute leukemia had subclinical retinal microvascular deficits on OCTA and GCIPL thickening on OCT, possibly associated with bone marrow function. GCIPL thickness may indicate acute ischemia in such patients. Further studies must elucidate their clinical and prognostic significance., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: During the non-attack period, people with migraine may show retinal dysfunction. This study builds on previous work by exploring the possibility of foveal and non-foveal visual field and electroretinographic deficits and determining the overlap in eccentricity of such localized visual deficits in people with migraine., Methods: Visual fields and multifocal electroretinography (mf-ERG) were tested in 27 people with migraine (aged 19-45 years) and 18 non-headache controls (aged 20-46 years). Data were averaged according to 5 concentric rings at < 1.5 degrees (foveal) and 5 degrees, 10 degrees, 15.5 degrees, and 22 degrees eccentricities (non-foveal). Linear mixed effects modelling was used to predict mf-ERG amplitude, mf-ERG peak time, and visual field sensitivity with fixed effects of eye, group, and eccentricity., Results: Foveal mf-ERG responses, and visual field sensitivity across all eccentricities (foveal and non-foveal) were similar between the migraine and control groups (P > 0.05). In contrast, the non-foveal mf-ERG was reduced in amplitude in people with migraine relative to controls (P < 0.001), and this group difference depended on eccentricity (P < 0.001) - most prominently, in the parafoveal region (ring 2, P = 0.001)., Conclusions: Retinal electrophysiological deficits were observed in people with migraine in the parafoveal region (between 1.5 degrees and 5 degrees eccentricity), without corresponding visual field deficits. This suggests a spatially localized area of retinal neuronal dysfunction in people with migraine that is insufficient to manifest as a visual field sensitivity loss using standard perimetric methods. Our study highlights the added confound of migraine when conducting standard clinical retinal electrophysiological tests for conditions such as glaucoma, particularly non-foveally.

Retinopathy and albuminuria are associated with hip fracture risk. We investigated whether these disorders and endothelial dysfunction (which underlies microvascular diseases) were associated with low trabecular bone density. No significant associations were found, suggesting that microvascular diseases are not related to fracture risk through low trabecular bone density., Purpose: Microvascular diseases of the eye, kidney, and brain are associated with endothelial dysfunction and increased hip fracture risk. To explore the basis for higher hip fracture risk, we comprehensively examined whether markers of microvascular disease and/or endothelial dysfunction are related to trabecular bone mineral density (BMD), a proximate risk factor for osteoporotic fractures., Methods: Among 6814 participants in the Multi-Ethnic Study of Atherosclerosis study (MESA), we derived thoracic vertebral trabecular BMD from computed tomography of the chest and measured urine albumin to creatinine ratios (UACR), retinal arteriolar and venular widths, flow mediated dilation (FMD) of the brachial artery after 5 min of ischemia; and levels of five soluble endothelial adhesion markers (ICAM-1, VCAM-1, L-selectin, P-selectin, and E-selectin). Linear regression models were used to examine the association of trabecular BMD with markers of microvascular disease and with markers of endothelial dysfunction., Results: We observed no significant associations of UACR, retinal arteriolar or venular widths, or FMD with BMD. We also observed no statistically significant association of spine trabecular BMD with levels of endothelial adhesion markers. Men and women had largely similar results., Conclusion: We conclude that there is little evidence to connect thoracic spine trabecular BMD to microvascular disorders or to endothelial dysfunction among multi-ethnic middle-aged and older adults. Other factors beyond trabecular BMD (e.g., bone quality or predisposition to falling) may be responsible for the associations of microvascular disease with osteoporotic fractures., (© 2024. International Osteoporosis Foundation and Bone Health and Osteoporosis Foundation.)

Purpose: To assess the cone photoreceptors' morphology and associated retinal sensitivity in laser-induced retinopathy (LIR) using adaptive optics scanning laser ophthalmoscopy (AO-SLO) and microperimetry (MP)., Design: Cohort study., Methods: This study included 13 patients (15 eyes) with LIR and 38 age-matched healthy volunteers (38 eyes). Participants underwent comprehensive evaluations including AO-SLO, MP, and spectral-domain OCT. Lesion morphology, cone density, dispersion, and regularity in AO-SLO were assessed and correlated with visual function., Results: In AO-SLO images, LIR lesions were predominantly characterized by hyporeflective regions, suggesting potential cone loss at the fovea, accompanied by the presence of sizable clumps of hyperreflective material within these lesions. The average size of lesions in affected eyes was 97,128±107,478 µm², ranging from 6705 to 673,348 µm². Compared with the healthy contralateral eye and control group, LIR demonstrated significantly reduced cone density, increased cone dispersion, and notably decreased cone regularity in all 4 quadrants at 3° eccentricity (all P values < .05). Lesion morphology in AO-SLO correlated with ellipsoid zone defects observed in OCT, showing a positive correlation in size (r = 0.84, P < .001) but not with retinal sensitivities (P = .09). Similarly, cone density at 3° eccentricity did not correlate with retinal sensitivities (P = .13)., Conclusions and Relevance: The study provides crucial insights into the morphologic and functional impacts of LIR on cone photoreceptors, revealing significant morphologic changes in cones that do not consistently align with functional outcomes. This research highlights the need for continued exploration into the relationship between retinal structure and function in LIR, and the importance of heightened public awareness and preventive strategies to mitigate the risk of LIR., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Subretinal injection is the preferred delivery technique for various novel ocular therapies and is widely used because of its precision and efficient delivery of gene and cell therapies; however, choosing an injection point and defining delivery parameters to target a specified retinal location and area is an inexact science. We provide an overview of the key factors that play important roles during subretinal injections to refine the technique, enhance patient outcomes, and minimise risks. We describe the role of anatomical and physical variables that affect subretinal bleb propagation and shape and their impact on retinal integrity. We highlight the risks associated with subretinal injections and consider strategies to mitigate reflux and retinal trauma. Finally, we explore the emerging field of robotic assistance in improving intraocular manouvrability and precision to facilitate the injection procedure., Competing Interests: Declaration of Competing Interest This manuscript is a review paper, has not been published and is not under consideration for publication elsewhere. We have no conflicts of interest to disclose., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: To investigate the pathophysiology and prognostic significance of acute Henle fiber layer (HFL) hyperreflectivity in placoid diseases by examining its relationship with impaired choroidal flow and persistent photoreceptor disruption., Methods: Retrospective-prospective observational study on patients with placoid diseases. Indocyanine green angiography and optical coherence tomography were performed during the acute phase and follow-up. Impaired choroidal flow, HFL hyperreflectivity, and persistent ellipsoid zone disruption, their colocalization index, and their associations with initial and final visual acuity were explored., Results: Sixteen eyes from eight patients (mean age, 25.3 ± 6.44 years) were included (median follow-up, 13.5 months). Quantitative analysis revealed significant correlations between areas of impaired choroidal flow, HFL hyperreflectivity, and persistent ellipsoid zone disruption (correlation coefficients of 0.69, 0.63, and 0.46, respectively). Impaired choroidal flow area exceeded HFL hyperreflectivity (P = 0.002) and ellipsoid zone disruption (P = 0.003). A noteworthy 94% nonrandom overlap between HFL hyperreflectivity and ellipsoid zone disruption was observed. Worse initial visual acuity correlated with foveal involvement (P = 0.0002), thicker choroid (P = 0.001), larger impaired choroidal flow areas (P = 0.02), and thinner outer retina post lesion inactivation (P = 0.04)., Conclusion: Henle fiber layer hyperreflectivity predicted photoreceptor recovery potential in placoid diseases. If HFL hyperreflectivity corresponds to acute HFL damage, it may suggest more severe involvement of the entire photoreceptor length.

Background: Topical non-steroidal anti-inflammatory drugs have the potential to reduce treatment burden and improve outcomes of anti-VEGF therapy for a number of retinal disorders, including neovascular age-related macular degeneration, diabetic macular edema, and retinal vein occlusions. In this review, we focused on the advantages of topical bromfenac as an adjunct to intravitreal anti-VEGF therapy in VEGF-driven maculopathies., Methods: Cochrane Library, PubMed, and EMBASE were systematically reviewed to identify the relevant studies of neovascular age-related macular degeneration, diabetic macular edema, macular edema associated with retinal vein occlusion, myopic choroidal neovascularization, and radiation maculopathy which reported changes in central retinal thickness, visual acuity, and the number of anti-VEGF injections needed when anti-VEGF therapy was combined with topical bromfenac., Results: In total, ten studies evaluating bromfenac as an adjunct to anti-VEGF therapy were identified. Five studies were included in meta-analysis of the number of injections and five studies were included in the analysis of changes in central retinal thickness. A statistically significantly lower number of intravitreal injections (p = 0.005) was required when bromfenac was used as an adjunct to anti-VEGF therapy compared to anti-VEGF monotherapy with pro re nata regimen. At the same time, eyes receiving bromfenac as an adjunct to anti-VEGF therapy demonstrated non-inferior outcomes in central retinal thickness (p = 0.07). Except for one study which reported better visual outcomes with combined treatment, no difference in visual acuity or clinically significant adverse effects were reported., Conclusions: This literature review and meta-analysis showed that topical bromfenac can be considered as a safe adjunct to anti-VEGF therapy with a potential to reduce the treatment burden with anti-VEGF drugs requiring frequent injections without compromising improvement of central retinal thickness or visual acuity., (© 2024. The Author(s).)

This article describes the main visual electrodiagnostic tests relevant to neuro-ophthalmology practice, including the visual evoked potential (VEP), and the full-field, pattern and multifocal electroretinograms (ffERG; PERG; mfERG). The principles of electrophysiological interpretation are illustrated with reference to acquired and inherited optic neuropathies, and retinal disorders that may masquerade as optic neuropathy, including ffERG and PERG findings in cone and macular dystrophies, paraneoplastic and vascular retinopathies. Complementary VEP and PERG recordings are illustrated in demyelinating, ischaemic, nutritional (B12), and toxic (mercury, cobalt, and ethambutol-related) optic neuropathies and inherited disorders affecting mitochondrial function such as Leber hereditary optic neuropathy and dominant optic atrophy. The value of comprehensive electrophysiological phenotyping in syndromic diseases is highlighted in cases of SSBP1-related disease and ROSAH (Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and Headache). The review highlights the value of different electrophysiological techniques, for the purposes of differential diagnosis and objective functional phenotyping., (© 2024. The Author(s).)

Purpose: Economic evaluations of interventions for ocular disease require utility scores that accurately represent quality of life in the target population. This study aimed to describe the distribution of EQ-5D-5L utility values among Australian adults with symptomatic inherited retinal diseases (IRDs) and to assess the relationship between these scores and vision-related quality of life., Methods: A survey was administered predominantly online in 2021. Participants completed the EQ-5D-5L general health utility instrument, the EQ vertical visual analogue scale (EQ-VAS) and the National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25). Self-reported IRD diagnoses were classified as being associated with central or widespread retinal involvement., Results: Responses from 647 participants aged 18-93 years were included, 50.1% were men and 77.6% had an IRD associated with widespread retinal involvement. The majority reported no problems with self-care and no pain/discomfort but did report anxiety/depression and problems with work, study, housework, or family/leisure activities. Most people with widespread involvement reported problems with mobility. Median EQ-5D-5L utility was 0.88 and 0.91 among people with widespread and central involvement, respectively (age and sex-adjusted p = 0.029); and median EQ-VAS was 75 and 80, respectively (adjusted p = 0.003). A moderate curvilinear correlation was observed between EQ-5D-5L and NEI-VFQ-25 composite score (Spearman's ρ 0.69), but not all people with poor vision-related quality of life had low EQ-5D-5L utility values., Conclusions: EQ-5D-5L health utility values are correlated with vision-related quality of life among adults with IRDs. However, the EQ-5D-5L may not be sensitive to the full impact of vision impairment on quality of life., (© 2024 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)