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Purpose: To describe a new retinal phenotype characterized by bilateral, multifocal, subretinal vitelliform lesions along the vascular arcades that we refer to as multifocal vitelliform paravascular retinopathy (MVPR)., Design: Observational case series., Methods: Multimodal retinal imaging including color fundus photography, fundus autofluorescence and cross sectional and en-face optical coherence tomography was performed to evaluate and characterize the lesions of MVPR., Results: Thirteen asymptomatic patients aged 10 to 78 [mean 49 ± 24, 49% under 50] were evaluated for bilateral retinal lesions. Initial visual acuity was 20/30 or better in 22 (85%) eyes. Of the 20 eyes with follow-up, 14 (70%) exhibited visual acuity 20/30 or better at final follow-up. Multifocal small round yellow lesions with distinct borders were identified along the vascular arcades in all patients. The vitelliform lesions were brightly hyperautofluorescent and consisted of focal areas of subretinal hyperreflective material on optical coherence tomography (OCT) that in some cases evolved to hyporeflective spaces (or retinal pigment epithelium atrophy) with associated hypoautofluorescence. When performed, electroretinography (ERG) and electrooculography (EOG) testing were normal and genetic testing was negative for variants in BEST1 and other genes associated with vitelliform retinopathies., Conclusions: MVPR may represent a novel entity of vitelliform disorders with a distinct clinical presentation and phenotype and generally favorable prognosis., (Published by Elsevier Inc.)

Objectives: To characterize acquired vitelliform lesions associated with leptochoroid (i.e., diffuse choroidal thinning) and reticular pseudodrusen (RPD) and compare this phenotype to the acquired vitelliform lesion (AVL) in the dystrophic spectrum., Methods: This retrospective, observational case-control study enrolled 56 patients (56 eyes) affected by vitelliform lesions (AVL), including 27 patients with AVL associated with RPD and leptochoroid (i.e., choroidal thinning) referred to as LeptoVitelliform Maculopathy (LVM), and 29 AVL patients without other funduscopic abnormalities. The main structural features analysed were the integrity of the external limiting membrane (ELM), ellipsoid zone (EZ), and retinal pigment epithelium (RPE), the presence of hyporeflective spaces, and hypertransmission. Choroidal vascular index (CVI) was calculated using ImageJ software., Results: Patients with LVM were 6.69 years older and presented smaller vitelliform lesions considering both vertical (P < 0.001) and horizontal diameters (P < 0.001) with a similar visual impairment compared to the AVL group (P = 0.27). The LVM subgroup showed a greater alteration of the ELM (p < 0.001) and choroidal hypertransmission (i = 0.007), accompanied by less frequent RPE bumps (P = 0.001) and hyporeflective spaces within the vitelliform material (P = 0.002). Furthermore, the LVM group presented a lower CVI with a significant attenuation on both the luminal and stromal compartments compared to AVL (P < 0.001, both)., Conclusions: The phenotypic combination of subretinal vitelliform lesion and RPD may delineate a distinct phenotype that shares with AVL only the presence of vitelliform material and a similar visual deterioration. The presented findings of LVM highlight significant structural and microvascular alterations that may hold prognostic relevance, warranting future longitudinal studies., (© 2024. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Background: Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1., Methods: We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis., Results: The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations., Conclusions: This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies., (© 2024. The Author(s).)

Purpose: To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults., Design: Single-center retrospective, consecutive, observational study., Participants: Patients with a clinical diagnosis of BVMD from pedigrees with a likely disease-causing monoallelic sequence variant in the BEST1 gene., Methods: Data were extracted from electronic and physical case notes. Electrophysiologic assessment and molecular genetic testing were analyzed., Main Outcome Measures: Molecular genetic test findings and clinical findings including best-corrected visual acuity (BCVA), choroidal neovascularization (CNV) rates, and electrophysiologic parameters., Results: Two hundred twenty-two patients from 141 families were identified harboring 69 BEST1 variants. Mean age at presentation was 26.8 years (range, 1.3-84.8 years) and most patients (61.5%) demonstrated deterioration of central vision. Major funduscopic findings included 128 eyes (30.6%) with yellow vitelliform lesions, 78 eyes (18.7%) with atrophic changes, 49 eyes (11.7%) with fibrotic changes, 48 eyes (11.5%) with mild pigmentary changes, and 43 eyes (10.3%) showing a vitelliruptive appearance. Mean BCVA was 0.37 logarithm of the minimum angle of resolution (logMAR; Snellen equivalent, 20/47) for the right eye and 0.33 logMAR (Snellen equivalent, 20/43) for the left eye at presentation, with a mean annual loss rate of 0.013 logMAR and 0.009 logMAR, respectively, over a mean follow-up of 9.7 years. Thirty-seven patients (17.3%) received a diagnosis of CNV over a mean follow-up of 8.0 years. Eyes with CNV that received treatment with an anti-vascular endothelial growth factor (VEGF) agent showed better mean BCVA compared with eyes that were not treated with an anti-VEGF agent (0.28 logMAR [Snellen equivalent, 20/38] vs. 0.62 logMAR [Snellen equivalent, 20/83]). Most eyes exhibited a hyperopic refractive error (78.7%), and 13 patients (6.1%) received a diagnosis of amblyopia. Among the 3 most common variants, p.(Ala243Val) was associated with a later age of onset, better age-adjusted BCVA, and less advanced Gass stages compared with p.(Arg218Cys) and p.(Arg218His)., Conclusions: BVMD shows a wide spectrum of phenotypic variability. The disease is very slowly progressive, and the observed phenotype-genotype correlations allow for more accurate prognostication and counselling., Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article., (Copyright © 2024 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To assess ellipsoid zone (EZ) alterations in Best vitelliform macular dystrophy using spectral-domain optical coherence tomography., Methods: Prospective, observational case series. Forty-three patients (43 eyes) underwent complete ophthalmological examination at baseline and at 24 months: best-corrected visual acuity (BCVA), biomicroscopy, fundus photography, and spectral-domain optical coherence tomography were performed. Acquisition protocol included 19-line raster scan. Alterations in EZ were marked on spectral-domain optical coherence tomography, and the area was manually calculated on a near-infrared reflectance image. Three patterns were identified: A (decrease >0.25 mm2), B (±0.25 mm2), and C (increase >0.25 mm2). Primary outcome was to describe different patterns of EZ alteration. Secondary outcomes included their correlation with BCVA and the description of a central optically preserved islet., Results: At baseline, altered EZ was identified in 40 eyes. Worse BCVA significantly correlated with larger EZ alterations but not with lesion extension on fundus photograph. Only "pattern-C" eyes unveiled BCVA worsening at follow-up. Optically preserved islet was detected in 16 eyes (37%), disclosing significantly better vision; its disappearance at follow-up (n = 7; 44% of 16 eyes) correlated with a decrease in BCVA., Conclusion: The assessment of EZ status might represent a valuable functional marker in Best vitelliform macular dystrophy because stable alterations and the maintenance of a central optically preserved islet are associated with better visual acuity.

Purpose: To describe outer retinal structure in patients with Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT) and correlate these results with best-corrected visual acuity (BCVA) and patient age., Design: Retrospective cross-sectional study., Methods: Patients with molecularly confirmed BVMD were compared with normal control subjects (NCs). A complete clinical evaluation was performed, including BCVA, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine the stage of the lesion, the central macular thickness (CMT), the foveal outer nuclear layer (ONL) thickness, and tomographic structural changes., Results: Forty-two patients with BVMD (42 eyes) with a molecular diagnosis and 42 NCs (42 eyes) were included. Clinical stages (Gass clinical classification) were distributed as follows: 4.8% for stage 1, 23.8% for stage 2, 16.6% for stage 3, 45.2% for stage 4, and 9.5% for stage 5. The presence of subretinal fluid and vitelliform material was noted in 76% and 79% of the BVMD eyes examined, respectively, and was not associated with BCVA modification (P = .758 and P = .968, respectively). The median ONL thickness was significantly lower compared with the NCs (P < .001). BCVA was significantly correlated with stage (R = 0.710; P < .01), age (R = 0.448; P < .01), CMT (R = -0.411; P < .01), and ONL thickness (R = -0.620; P < .01). The disruption of the external limiting membrane and the ellipsoid zone was associated with a decreased BCVA (P < .001 for both). Among the 32 eyes with subretinal detachment, photoreceptor outer segment length was significantly correlated with BCVA (R = -0.467; P < .01) and ONL thickness (R = 0.444; P = < .01)., Conclusion: This study shows the correlation between BCVA, age, and spectral-domain OCT features in patients with BVMD. ONL thickness as well as photoreceptor outer segment length are relevant functional correlates and outcome measures to follow photoreceptor impairments and disease progression., (Copyright © 2019 Elsevier Inc. All rights reserved.)

A 33-year-old man presented with a 10-day history of bilateral blurred vision on a background of a prodromal influenza-like illness. Ocular Coherence Tomography (OCT) and fundal examination coincided with a diagnosis of atypical central serous retinopathy. The patient's symptoms worsened during follow-up, and he was started on steroids. Subsequent fundal examination revealed yellow deposits in a honeycomb pattern and hard exudates in the perimacular region. Serial OCTs revealed progression of bilateral macular intraretinal and subretinal fluid. He was subsequently admitted to hospital for a full paraneoplastic workup. Liaison with our colleagues in other specialist retinal centres led us to a diagnosis of acute exudative polymorphous vitelliform maculopathy syndrome. We subsequently took fundal images to monitor disease progression and to monitor changes seen with autofluorescence in this rare disease entity., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Purpose: To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM)., Design: Retrospective, observational, multicenter case series review., Participants: Consecutive patients diagnosed with idiopathic AEPVM., Methods: Review of clinical charts, multimodal imaging, electrophysiologic findings, and genetic findings in previously unpublished patients and review of the literature., Main Outcome Measures: Clinical features of idiopathic AEPVM and differential diagnosis., Results: Eighteen patients (age range, 21-74 years) with typical features of AEPVM, including initial localized, serous detachments followed by the development of characteristic yellow-white deposits in the vitelliform space. Over time, this hyperautofluorescent material gravitated within the larger lesions, resulting in typical curvilinear deposits characteristic of later stages. Symptoms and clinical findings lasted from weeks to several years. Some patients showed previously undescribed features such as fluorescein-negative intraretinal cystic changes, choroidal neovascularization, serous retinal elevations mimicking retinal folds, increased choroidal thickness, lack of rapid visual recovery, and recurrence years after complete resolution of initial manifestations., Conclusions: Acute exudative polymorphous vitelliform maculopathy can present with a more variable natural course than previously described. Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AEPVM, necessitating medical and hereditary evaluation to exclude these clinical possibilities. This series of patients with AEPVM expands the clinical spectrum of the disorder, including demographics, clinical manifestations, imaging features, natural course, and visual prognosis., (Copyright © 2017 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Aim: To investigate the presence of focal choroidal excavation (FCE) in patients with retinitis pigmentosa (RP), Stargardt's disease (STGD), and Best disease in the Indian population., Methods: This retrospective consecutive case series included 309 eyes of 157 patients with RP (183 eyes), STGD (93 eyes), and Best disease (33 eyes) with good-quality, enhanced-depth spectral domain optical coherence tomography scans. Comprehensive ophthalmic examination data were collected. Characteristics of FCE, including location of FCE, type (conforming and non-conforming), maximal width, and depth, were noted., Results: FCE was found in 2 out of 33 (6%) eyes with Best disease and no FCE was found in eyes with RP or STGD. The location of the FCE was extrafoveal in both cases. The first case had non-conforming FCE while the second case had the conforming type and the FCE occurred in association with choroidal neovascularization in the second case. The first case maintained good visual acuity of 20/20 over the entire period of follow-up (14 months), while the second case had a visual acuity of 20/200 at the last follow-up (three years) due to scarred choroidal neovascular membranes. The FCE showed no change in both eyes over the entire duration of follow-up., Conclusion: Focal choroidal excavation was found in 6% of eyes with Best disease, which remained stable throughout follow up. Eyes with RP and STGD did not have any FCE. Further studies are required to determine the role of vitelliform material in FCE development in Best disease.

Purpose: To describe the presenting features and functional outcomes in a series of patients with choroidal neovascular membrane complicating BEST1-related retinopathy (Best disease and autosomal recessive bestrophinopathy)., Methods: Retrospective review of consecutive cases at a tertiary care eye hospital. Patients were identified retrospectively over an 11-year period. Records were reviewed to extract demographic as well as functional and anatomical outcome data., Results: Fourteen eyes of 12 patients were identified (11 Best disease and 1 autosomal recessive bestrophinopathy). Median follow-up was 2.8 years (range 0.8-6). The median age at choroidal neovascular membrane discovery was 15.5 years (range 6-72). Choroidal neovascular membranes were active early in the disease course before vitelliruption. Seven eyes were treated with intravitreal bevacizumab, 7 eyes were monitored by observation alone. On average, patients required a single treatment (median = 1, range 1-10). The median gain in visual acuity was greater in the treated versus the observed group-0.46 versus 0.17 decimalized units of Snellen acuity, respectively (P < 0.05 Mann-Whitney U test). Although a significant reduction in central macular thickness was evident in both groups, 150 μm (treated) and 104 μm (observed), active treatment was not associated with greater thinning than observation (P > 0.05 Mann-Whitney U test)., Conclusion: There is a high rate of spontaneous recovery of BEST1-related choroidal neovascular membrane, and overall the authors observed a gain in visual acuity associated with a reduction in central macular thickness. Active treatment, here with intravitreal bevacizumab, is associated with better functional outcomes than observation alone.

Best's macular dystrophy (BMD) usually manifests with visual failure in the first or second decade of life; however, there is a large variability in expressivity of the disease, and some patients have no manifestation other than a pathological electro-oculogram (EOG). Autosomal dominant Best's vitelliform macular dystrophy (AD-BVMD) has a very specific phenotype that varies with the stage of the disease. In recent years, the authors have seen description of another clinical entity known as autosomal recessive BMD. Herein, the authors describe a 5-year-old girl referred from a peripheral hospital for investigation with a positive family history of BMD. Clinical findings included best-corrected visual acuity of 0.325 and 0.300 in the right and left eyes, respectively, by Sonksen logMar test, full color vision, normal orthoptic examination, and a small degree of hyperopia consistent with age. Macular optical coherence tomography (OCT) showed intraretinal fluid cysts and EOG showed reduced Arden ratio. Genetic testing was done for the proband and her father, who were found to be heterozygous for c.37C>T p. (Arg13Cys). The proband's younger sister will be reviewed and followed up once of age. The authors identified a new phenotype of AD-BVMD; although this is a single patient, more young children with BMD can now be scanned with the availability of hand-held OCT with better knowledge of the phenotype. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:580-585.]., (Copyright 2017, SLACK Incorporated.)

Introduction: To compare mean best-corrected visual acuity (BCVA), retinal sensitivity (RS), and bivariate contour ellipse area (BCEA) in patients with adult-onset foveomacular vitelliform dystrophy (AOFVD) and healthy subjects (HSs), reporting also functional disease-related changes in the different stages of the AOFVD disease., Materials and Methods: In this observational cross-sectional study, a total of 19 patients (30 eyes; 12 female and 7 male) with AOFVD were enrolled, and 30 patients (30 eyes; 16 female and 14 male) were recruited as age-matched control group (74.36 ± 9.17 years vs. 71.83 ± 6.99 years respectively, P= 0.11). All patients underwent a complete ophthalmologic examination, fundus autofluorescence and fluorescein angiography, spectral-domain optical coherence tomography and microperimetry (MP)-1 analysis. The data collection included mean BCVA, mean RS measured by means of MP-1, BCEA, and central retinal thickness., Results: All the functional parameters (BCVA, RS, and BCEA) were significantly worse in AOFVD group than HS. Subgroup analysis showed that the most significant functional changes, quantified by mean BCVA, RS, and BCEA, were in the atrophic stage (P = 0.03, P= 0.01, and P= 0.001, respectively). All the functional parameters were well correlated in the different stages., Conclusions: This study further confirms the good visual prognosis in the AOFVD eyes. Fixation stability measurement using BCEA demonstrates good evaluation of visual performance integrating traditional functional parameters. It may also serve for further rehabilitative purposes in atrophic eyes.

Background/aims: Adult-onset foveomacular vitelliform dystrophy (AFVD) is a relatively common macular degeneration which might lead to substantial visual loss. Our purpose was to describe the natural course of genetically evaluated patients with sporadic AFVD., Methods: A retrospective, consecutive, cohort study included 95 eyes of 51 patients. Mutations in genes previously associated with AFVD (PRPH2, BEST1, IMPG-1 and IMPG-2) were evaluated. Demographics, clinical characteristics, and spectral domain optical coherence tomography features were analysed. Main outcome measures were changes in the best corrected visual acuity (BCVA) and lesion morphology during the follow-up., Results: The mean age (±SD) at diagnosis was 73.8±10.7 years. Mean (±SD) follow-up period was 30.4±16.3 months (range 0-44 months; median 25 months). All patients were genotyped negative for the evaluated mutations. Fifty-three of the eyes were followed for at least 36 months. At baseline these eyes had a mean BCVA (±SD) of 0.27±0.35 LogMAR, and at 36-months BCVA decreased to 0.38±0.35 (p=0.02). At baseline, 23 of these 53 eyes (43.4%) had the vitelliform stage, while only 10 eyes (18.9%) remained at this stage at 36 months (p=0.01). Ellipsoid zone alterations progressed during the follow-up (n=53 eyes) and showed correlation with BCVA reduction (Pearson's correlation coefficient=0.7, p=0.03)., Conclusions: Sporadic AFVD is a slowly progressing macular degeneration of older people. It is associated with visual decline at the rate of approximately one ETDRS line during 3 years. Patients with sporadic AFVD are usually negative for the known mutations previously associated with this phenotype, and present at an age that is higher than described for monogenic AFVD., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

Purpose: To identify the fundus autofluorescence (FAF) patterns in Best vitelliform macular dystrophy (VMD)., Methods: Patients affected by VMD in vitelliform, pseudohypopyon, and vitelliruptive stages underwent a complete ophthalmological examination, including best-corrected visual acuity (BCVA), short-wavelength FAF (SW-FAF), near-infrared FAF (NIR-FAF) and microperimetry., Main Outcome Measures: the identification of the correlation between SW-FAF and NIR-FAF patterns of the foveal region with BCVA, and central retinal sensitivity in eyes affected by VMD. The secondary outcomes included the definition of the frequency of foveal patterns on SW-FAF and NIR-FAF., Results: Thirty-seven of 64 (58 %), 8 of 64 (12.5 %) and 19 of 64 (29.5 %) eyes showed vitelliform, pseudohypopyon, and vitelliruptive stages respectively. Three main FAF patterns were identified on both techniques: hyper-autofluorescent pattern, hypo-autofluorescent pattern, and patchy pattern. BCVA was significantly different in eyes with hypo-autofluorescent and patchy patterns with respect to eyes showing a hyper-autofluorescent pattern. Similar differences were registered in the FS according to SW-FAF classification. However, the FS differed in each subgroup in the NIR-FAF analysis. Subgroup analyses were performed on the patchy pattern, combining FAF and fundus abnormalities. Considering both FAF techniques, the BCVA differed between the vitelliform and pseudohypopyon stages, and between the vitelliform and vitelliruptive stages. In the NIR-FAF classification, there was a significant statistical difference in the FS between each subgroup; in the SW-FAF, there was a significant difference between the vitelliform and pseudohypopyon stages and the vitelliform and vitelliruptive stages., Conclusions: Three main FAF patterns can be identified in VMD. The patchy pattern is the most frequent, accounting for 70 % of eyes on SW-FAF and 80 % of eyes on NIR-FAF. A tighter correlation links the classification of NIR-FAF patterns and FS. Longitudinal investigations are warranted to evaluate the course of FAF patterns and their role in disease monitoring.

Purpose: To report an improvement of the visual acuity after transcorneal electrical stimulation (TES) in a case of Best vitelliform macular dystrophy (BVMD)., Patient and Methods: A 26-year-old woman diagnosed with BVMD presented with reduced vision. Her best corrected visual acuity (BCVA) was reduced to 20/200 in the right eye, and TES was performed once a month for two sessions. The current of the biphasic pulses (anodic first; duration, 10 msec; frequency, 20 Hz) was delivered using a DTL-electrode, and the duration of the TES was 30 min., Results: The BCVA in the right eye slowly improved after the TES, and 6 months later the BCVA was 20/25. The results of Humphrey visual field tests (VF) and multifocal ERGs (mfERGs) were only slightly changed. Two years later, the BCVA decreased, and it was improved again after another session of TES with the same parameters of the electrical pulses., Conclusion: The improvement of the visual acuity in our case of BVMD indicates that TES should be tried in other cases of retinal dystrophy. Further clinical and laboratory studies on TES are needed.