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Purpose To study peripheral capillary non-perfusion (PCN-P) in branch retinal vein occlusion (BRVO) by means of ultra wide-field fluorescein angiography (UWFFA), and to correlate its extent and severity with optical coherence tomography (OCT) and OCT-angiography (OCTA) parameters and best corrected visual acuity (BCVA). Methods Prospective case series with 2 years of planned follow-up. We recruited patients from June 2019 to December 2019. Ophthalmologic examination included BCVA, UWFFA, OCT and OCTA. Partial (p) and complete (c) ischemic index (ISI) were evaluated on UWFFA images. Vessel density (VD) in both the macular region and the optic nerve head (ONH) was calculated. Results Twelve BRVO subjects and 12 healthy controls were recruited. Mean age was 63.8 ± 8.74 years. Mean BCVA improved from 0.43 ± 0.25 logMAR to 0.15 ± 0.18 after two years (p 0.05). Mean cISI, pISI and total ISI were 25.2 ± 13.0%, 6.3 ± 5.0% and 31.5 ± 12.0%, respectively. Except for VDs of the superficial capillary plexus and choriocapillaris in the macular region, all VDs were lower in the BRVO group (p Conclusion The amount of complete and partial ischemia may have different implications in BRVO, with the former being more associated with microvascular impairment and the latter with macular edema.

Retinitis pigmentosa (RP) is a group of inherited rod-cone dystrophies, noted for a high genotypical and phenotypical heterogeneity. Traditionally, VA, visual field, and electroretinography have been used to assess RP progression. However, visual acuity and visual field tests are essentially subjective and, especially in the late stages of the disease, are unable to confidently reveal minor progression. Therefore, there is a need for novel examination modalities that rely on quantitative, structural measurements. In this regard, several non-invasive imaging techniques have been studied, including spectral-domain optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence. By correlating surrogate biomarkers with functional measurements of the disease, these techniques may be able to develop reliable outcome meters that can be used to gain a deeper understanding of the underlying causes of the disease and to assess the effectiveness of therapy even before an actual loss of vision occurs. In this review, we will summarize the recent imaging findings and biomarkers that have been identified in RP patients. Our goal is to provide information that can promptly aid in selecting patients for clinical trials and new gene therapies, monitoring the disease progression, and evaluating treatment outcomes.

Purpose To describe the clinical characteristics of two patients affected by extensive macular atrophy with pseudodrusen-like (EMAP). Methods Two patients affected by EMAP underwent multimodal imaging, including fundus autofluorescence and optical coherence tomography. Results The patients showed the typical clinical appearance with macular atrophy with larger vertical axis surrounded by pseudodrusen-like deposits involving the midperiphery, associated with paving stone lesions in the retinal periphery. Conclusion EMAP is a complex condition sharing clinical characteristics of age-related macular degeneration. Further studies are warranted to identify the early biomarker of the disease.

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.

Purpose To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant. Methods Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), OCT Angiography (OCTA), blue-light autofluorescence (BAF), and ultra-widefield pseudocolor retinography and autofluorescence. Genetic testing was performed using next-generation sequencing. Results A 67-year-old male presented with a clinical suspicion of retinitis pigmentosa. His best-corrected visual acuity was 20/32 in the right eye and 20/200 in the left eye. On fundus examination, paravenous pigment clumping and chorioretinal atrophy were seen bilaterally, matching confluent hypoautofluorescent areas departing from the optic disc. This clinical presentation suggested a case of PPCRA. Genetic testing found a heterozygous deletion of nucleotide 631 (c.631del) in the RPGRIP1 gene, a frameshift variant that generates a premature stop codon (p.Ser211Valfs*64) and therefore results in a truncated or absent protein product. The variant was regarded as likely pathogenic (class IV). Conclusion In this report, we describe a case of PPCRA in association with a novel, likely pathogenic c.631del, p.Ser211Valfs*64 variant in RPGRIP1, a gene that has been associated with Leber congenital amaurosis and cone-rod dystrophy. Our case expands the spectrum of genes associated with PPCRA and prompts further studies to ascertain the molecular etiopathogenesis of this disease.

Purpose: To identify a new cortical vitreous segmentation protocol for non invasive standardised investigation of Neovascularisation (NV) with detection of regression of NV activity in Proliferative Diabetic Retinopathy (PDR). Design: Retrospective study. Participants: One hundred and eighty-six eyes of 93 consecutive diabetic patients (mean age: 52.6 ± 11.0 years) imaged using Topcon Triton® Swept-Source Optical Coherence Tomography Angiography (SS-OCTA) from June 2015 to January 2017. Methods: Scans were performed through the macula, optic disc and areas of possible NV in mid-peripheral retina using 6 × 6 mm and/or 9 × 9 mm raster-patterns in three segmentation protocols: Vitreo-Retinal (VRS), Outer-Vitreous (OVS) and Core-Vitreous Segmentation (CVS). Any suspicion of PDR was confirmed in all patients by Heidelberg® Widefield-Fundus-Fluorescein-Angiography (WF-FFA) and/or Optos® Ultra-WF-FFA (UWF-FFA). Inter-observer reproducibility of NV diagnosis and agreement between SS-OCTA and UWF-FFA were assessed. Primary outcome was the identification of an effective and reproducible segmentation protocol. Secondary outcome was the identification of NV regression after treatment. Results: Sensitivity-specificity reached, respectively, the value of 100 to 100 in detecting NVD, and 96.6 to 100 in detecting NVE in compared areas. SS-OCTA was able to confirm absence of blood flow within the residual NV plexus when using VRS protocol in 30 eyes in which regression of NV with absence of leakage was documented on FFA. Conclusion: Three segmentation protocols (VRS, OVS and CVS) with different but complementary characteristics, allowed a reproducible and standardised investigation of NVD and NVE. The proposed new SS-OCTA cortical vitreous segmentation protocols may be of value when identifying and assessing NV-activity (VRS, OVS and CVS) or NV-regression (VRS) in PDR and therefore, response to therapy.

Purpose: To describe the patterns on near-infrared fundus autofluorescence in eyes affected by early age-related macular degeneration. Design: Cross-sectional observational case series. Participants: A total of 84 eyes of 84 patients suffering from early age-related macular degeneration (>63 μm but Methods: Patients underwent best-corrected visual acuity, biomicroscopy, infrared reflectance, short-wavelength fundus autofluorescence, and near-infrared fundus autofluorescence. Eyes were classified according to different patterns of near-infrared fundus autofluorescence. Main outcome was definition of relative prevalence and features of each near-infrared fundus autofluorescence pattern; secondary outcomes were correlation between near-infrared fundus autofluorescence and short-wavelength fundus autofluorescence and between near-infrared fundus autofluorescence patterns and best-corrected visual acuity. Results: Four different patterns of near-infrared fundus autofluorescence identified: normal foveal signal (Pattern A, 7%); normal foveal signal with hyperautofluorescent/hypoautofluorescent spots not involving the fovea (Pattern B, 65.5%); hyperautofluorescent/hypoautofluorescent spots involving the fovea (Pattern C, 15.5%); patchy pattern (Pattern D, 12%). best-corrected visual acuity was lower in eyes with foveal signal alteration (Patterns C and D). Conclusion: Near-infrared fundus autofluorescence pattern in early age-related macular degeneration might be suggestive of visual function deterioration when the fovea is involved. Longitudinal studies are warranted to confirm our preliminary results.

Purpose: To study the real-life outcomes of intravitreal anti–vascular endothelial growth factor treatment in patients affected by age-related macular degeneration and diabetic macular edema in an Italian tertiary referral hospital over a 2-year follow-up. Methods: Patients with confirmed diagnosis of age-related macular degeneration or diabetic macular edema and 2 years of follow-up were retrospectively analyzed. They underwent a loading dose of three monthly anti–vascular endothelial growth factor injections, with re-treatment performed following a “pro-re-nata” regimen. Best-corrected visual acuity and central retinal thickness were collected and statistically analyzed. Results: In total, 167 diabetic macular edema eyes and 108 age-related macular degeneration eyes were included. Mean age was 63.4 ± 11.8 years for diabetic macular edema and 75.6 ± 8.4 years for age-related macular degeneration. For diabetic macular edema patients, mean number of injections was 5.0 ± 1.7 at 1 year and 2.8 ± 1.8 at 2 years. Mean best-corrected visual acuity improved from 60 Early Treatment for Diabetic Retinopathy Study letters to 66.7 letters at 1 year, and to 70 letters at 2 years (p Conclusions: Our study described the 2-year real-life outcome of anti–vascular endothelial growth factor treatment of diabetic macular edema and age-related macular degeneration.

Purpose Bietti crystalline dystrophy (BCD) is a rare autosomal recessive retinal dystrophy caused by pathogenic variants of CYP4V2 gene and characterized by shiny yellow deposits in the retina and progressive atrophy of the retinal pigment epithelium (RPE) and choriocapillaris. The main aim of the present study is to describe the optical coherence tomography angiography (OCTA) characteristics of a patient affected by BCD. Methods A 59-years-old female with genetically confirmed BCD underwent an ophthalmological examination complete of OCTA performed in the atrophic retina, the junctional zone and the apparently normal retina. The area of choriocapillaris (CC) atrophy was compared to the area of RPE atrophy on fundus autofluorescence (FAF) imaging. Results A severe vessel density (VD) deficit at the level of superficial and deep capillary plexa as well as CC was registered in atrophic areas, which resulted deeper with respect to the junctional area, whereas the apparently preserved retina revealed VD values similar to that of control eyes. The area of RPE atrophy on FAF was larger (55.90 mm2 in right eye and 48.76 mm2 in left eye) than the area of CC atrophy on OCTA imaging (51.86 mm2 and 42.44 mm2 respectively in right and left eye). Conclusions Our findings suggest that VD impairment of retinal plexa and CC follows the degeneration of RPE as demonstrated by the greater size of the area of RPE atrophy compared to CC atrophy. Further investigations based on OCTA imaging are necessary to enhance our knowledge of this rare disease.

Purpose: To report the morphological and clinical features of a case of myopic macular degeneration with large choroidal excavation. Methods: A myopic patient underwent multimodal imaging, including optical coherence tomography and fluorescein angiography, over a 8-year follow-up. Results: A choroidal excavation was found in left eye, superior to the fovea. The excavation started as a focal choroidal excavation (FCE) and got deeper and larger during the 8-years-long follow-up, thus resulting in a large choroidal excavation (LCE). Conclusions: LCE may be the evolution of FCE in highly myopic eyes, further studies are needed to describe the natural history of choroidal excavations in degenerative myopia.

Purpose: To report a case of combined central retinal vein occlusion and branch retinal artery occlusion in a 51-year-old male with a very good response to dexamethasone implant therapy. Methods: This is a descriptive case report based on data from clinical records, patient observation and follow-ups, and analysis of acquired diagnostic tests. Results: A 51-year-old man presented with sudden vision loss and best-corrected visual acuity of 20/40 in his left eye. A pale inferotemporal arterial branch course area along with increased vascular tortuosity, retinal hemorrhages, optic disk swelling, and macular edema were observed on slit lamp biomicroscopy examination. Right eye was normal. Diagnosis of combined central retinal vein occlusion and branch retinal artery occlusion in left eye was confirmed by fluorescein angiography and color fundoscopy, respectively. Optical coherence tomography confirmed subretinal fluid and intraretinal cysts with a prominent middle-limiting membrane in the inner synaptic portion of the outer plexiform layer, corresponding to areas of paracentral acute middle maculopathy. Intravitreal dexamethasone implant was administered to the patient. One month later, visual acuity was recovered with complete absorption of macular edema. Functional and anatomical stabilization were confirmed after 24 months. Conclusion: Combined central retinal vein occlusion and branch retinal artery occlusion represents a rare condition, with variable functional outcomes due to the long-term complications such as macular edema. We hypothesize that prompt diagnosis and immediate intravitreal corticosteroid implant therapy reduced macular edema, thus contributing to arterial perfusion improvement, which in this case lead to a full sustainable recovery with limited functional and anatomical damage.

Purpose: To report the morphological and clinical features of a case of retinitis pigmentosa with large choroidal excavation. Methods: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity assessment, anterior segment and dilated fundus examination and spectral-domain optical coherence tomography. Results: A 41-year-old woman affected by retinitis pigmentosa with genetic confirmation with mutation in RDH12 gene had a best-corrected visual acuity of 20/50 in both eyes. Dilated fundus examination revealed waxy pallor of the optic disc, diffuse narrowing of the retinal arterioles and a generalized retinal pigment epithelium mottling with bony spicule associated with diffuse retinal atrophy. At the posterior pole, an extended bilateral chorioretinal atrophy was evident with a partial sparing of the macular area. On spectral-domain optical coherence tomography, a bilateral large choroidal excavation could be clearly detected and it was associated with a diffuse retinal thinning at the posterior pole and a partial sparing of the fovea. Conclusion: Large choroidal excavation has been rarely reported. Although the pathogenetic mechanisms leading to the formation of large choroidal excavation are still a matter of debate, a combination of primary degenerative-inflammatory factors could be retained responsible for the large choroidal excavation development.

Purpose: Focal choroidal excavation (CE) is an unusual concavity in the choroid without posterior staphyloma or scleral ectasia and with pathogenesis is still unknown. In this article we present a case of de novo progressive focal choroidal excavation associated with exudative age-related macular degeneration (AMD). Methods: This study was designed as a descriptive case report based on clinical and imaging data collected during patient’s observation and follow-ups. Results: A 67-year-old man with systemic hypertension and hypercholesterolemia, with a previous diagnosis of bilateral AMD complicated by already treated macular neovascularization, underwent our attention to perform follow-up visits. Over the 5-year follow-up, the left eye remained stable, requiring no further treatments and disclosing a BCVA of 0.0 LogMAR. On the contrary, the right eye showed several exudation recurrences, requiring further anti-VEGF injections. Structural OCT detected the progressive development of a focal CE, which gradually enlarged converting into a large CE. Structural OCT examinations reported even growing defects of the Bruch’s membrane. Despite the evident progression of the CE, BCVA disclosed stable values over the 5-years follow-up (1.0 LogMAR), with a worsening of metamorphopsia. Conclusion: Large CE may be a complication of neovascular AMD. Bruch’s membrane abnormalities, including thickness and reflectivity changes, detectable on structural OCT, can be considered early biomarkers of potentially developing CE.

Purpose: To describe two cases of Cobb’s tufts in apparently healthy subjects. Methods: Observational case series. Results: Two patients reporting sudden vision loss, with subsequent complete recovery, underwent a complete ophthalmological examination, including iris fluorescein angiography. Both patients took an “eye-selfie” using their smartphone to provide evidence of the iris bleeding. Iris fluorescein angiography confirmed the presence of iris neovascular tufts at the pupillary margin. Conclusion: Diagnosis of Cobb’s tufts can frequently be challenging. The two patients’ astute action in taking photographs of the eye enabled the condition to be promptly identified.

SARS-CoV-2 infection recently reached pandemic proportions, with high risk of death for the worldwide population. In this dramatic scenario, all the resources are addressed to the intensive care units for the assessment of the emergency. However, more attention should be paid with respect to the risk of viral diffusion among asymptomatic people. Italy is the second most involved country in the world, and we needed to gain a lot of experience in a very limited time. At least 1 m of distance among people is recommended; however, some clinical practices cannot allow this distance. In this context, we believe that the careful safety assessment of clinical settings, like ophthalmologic ones, may have a remarkable impact on the fight against SARS-CoV-2 spread.

Purpose: To describe a case of retinal arterial macroaneurysm associated with macular pucker with good response to subthreshold laser treatment. Presentation: Two-year follow-up of a patient with decreased vision in one eye for the past 6 months. Baseline best-corrected visual acuity was 20/40 in the affected eye. Multiple retinal arterial macroaneurysms were diagnosed on biomicroscopy fundus examination, with the presence of subretinal fluid and hard exudates on macula. Multimodal imaging including optical coherence tomography and fluorescein angiography confirmed the diagnosis and presence of macular pucker, which complicated the treatment choice. The largest retinal arterial macroaneurysm was treated 2 days after the diagnosis by means of subthreshold micropulse laser using an infrared diode laser with 1400 mW power, 200 ms exposure and 10% duty cycle. Results: Five months after the treatment, despite absorption of subretinal fluid, there were increased hard exudates at the posterior pole and best-corrected visual acuity was unchanged. Progressively, the exudates were absorbed and vision improved. Eighteen months after the treatment, best-corrected visual acuity was 20/25. Hard exudates were almost completely reabsorbed, with no evidence of fluid. Macular pucker was unchanged, with no retinal traction or complications related to conventional laser treatment. Conclusion: Subthreshold laser treatment could be the treatment of choice in complicated cases of retinal arterial macroaneurysm with macular pucker, as it is able to modify the vessel permeability, without any thermal negative effect.

Purpose: To report the morphological and clinical features of a case of pachychoroid disease with focal choroidal excavation and large choroidal excavation complicated by choroidal neovascularization. Methods: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity assessment, anterior segment and dilated fundus examination, fluorescein and indocyanine green angiography, and spectral-domain optical coherence tomography. Results: During the previous follow-up, the 57-year-old man received a diagnosis of central serous chorioretinopathy in the right eye with a late appearance of a choroidal neovascularization. The best-corrected visual acuity was 20/125 and 20/20 in the right and left eye, respectively. Dilated fundus examination, fluorescein angiography, and indocyanine green angiography confirmed a large subretinal fibrosis corresponding to the evolution of the choroidal neovascularization in the right eye. Spectral-domain optical coherence tomography clearly demonstrated in the right eye a large choroidal excavation below the fibrotic neovascular lesion with multiple hyperreflective foci inside the cavity, and in the left eye, a conforming focal choroidal excavation, bowl-shape type, associated with increased choroidal thickness with pachyvessels. Conclusion: Large choroidal excavation has been rarely reported. Although the pathogenetic mechanisms leading to the formation of large choroidal excavation are still only hypotheses, a combination of primary degenerative inflammatory factors sustaining the focal choroidal excavation formation and disruptive process of the choroidal neovascularization could be retained responsible for the large choroidal excavation.

Aims:To present an authoritative, universal, easy-to-use morphologic classification of diabetic maculopathy based on spectral domain optical coherence tomography.Methods:The first draft of the project was developed based on previously published classifications and a literature search regarding the spectral domain optical coherence tomography quantitative and qualitative features of diabetic maculopathy. This draft was sent to an international panel of retina experts for a first revision. The panel met at the European School for Advanced Studies in Ophthalmology headquarters in Lugano, Switzerland, and elaborated the final document.Results:Seven tomographic qualitative and quantitative features are taken into account and scored according to a grading protocol termed TCED-HFV, which includes foveal thickness (T), corresponding to either central subfoveal thickness or macular volume, intraretinal cysts (C), the ellipsoid zone (EZ) and/or external limiting membrane (ELM) status (E), presence of disorganization of the inner retinal layers (D), number of hyperreflective foci (H), subfoveal fluid (F), and vitreoretinal relationship (V). Four different stages of the disease, that is, early diabetic maculopathy, advanced diabetic maculopathy, severe diabetic maculopathy, and atrophic maculopathy, are based on the first four variables, namely the T, C, E, and D. The different stages reflect progressive severity of the disease.Conclusion:A novel grading system of diabetic maculopathy is hereby proposed. The classification is aimed at providing a simple, direct, objective tool to classify diabetic maculopathy (irrespective to the treatment status) even for non-retinal experts and can be used for therapeutic and prognostic purposes, as well as for correct evaluation and reproducibility of clinical investigations.

Introduction: Disorders of vitreoretinal interface represent a rare complication of intravitreal dexamethasone implant injection. Our report describes a new mechanism resulting in cystic roof collapse and emphasizes the importance of a strict optical coherence tomography evaluation during therapy with dexamethasone injection in order to prevent this rare complication. Purpose: To describe the rupture of the cystic roof following treatment with sustained-release dexamethasone implant intravitreal injection (Ozurdex; Allergan, Irvine) for macular edema. Case report: A 71-year-old woman with a known history of macular edema secondary to central retinal vein occlusion in her right eye presented to our ophthalmology department complaining of vision loss after she underwent the fourth dexamethasone injection. Diffuse retinal hemorrhages and a reddish foveal lesion with hyperpigmented borders were observed on dilated fundus examination. On the other hand, spectral domain optical coherence tomography (Spectralis HRA + OCT, Heidelberg Engineering, Germany) revealed the roof dismantlement of a previously documented cyst, giving rise to a lamellar macular hole, with a stable epiretinal membrane in close proximity. On a 12-month follow-up, no anatomical or functional changes were observed. Conclusion: This report depicts a new mechanism leading to macular hole as a complication of numerous intravitreal dexamethasone injections, resulting in cystic roof collapse. Although we acknowledge the rarity of this complication, our case emphasizes the role of constant spectral domain optical coherence tomography evaluation of the vitreoretinal interface, even in long-standing macular edema without marked signs of vitreous traction.

Purpose To analyze spectral-domain optical coherence tomography (SD-OCT)-specific findings in the different stages of vitelliform macular dystrophy (VMD). Methods Thirty-seven patients were prospectively recruited. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity (BCVA), biomicroscopy, and SD-OCT. The examined findings were vitelliform material, neurosensory detachment, intraretinal hyperreflective foci, and the status of external limiting membrane, ellipsoid zone, and retinal pigment epithelium. The primary outcome was the stratification of SD-OCT findings in each VMD stage. Secondary outcomes included the description of different characteristics related to intraretinal hyperreflective foci. Results Outer retinal layers were preserved almost exclusively in stage 1 (range 70%-100%), whereas their disruption and absence were typical of stages 2 to 4 (83%-100%) and stage 5 (67%-83%), respectively. Vitelliform material was found always in stages 2 and 3, 89% of stage 4, and rarely in stage 5 (33%). Neurosensory detachment was to some extent representative of stages 3 and 4 (80% and 72%, respectively) when compared with the other stages (pConclusions A progressive deterioration of the outer retinal layers was noticeable in more advanced stages of VMD. The reduction of vitelliform material from stage 3 to 4 was paralleled by an increased evidence of neurosensory detachment. Although showing different size and location, hyperreflective foci did not correlate with worse BCVA.

Purpose: To describe a case of Ellis–van Creveld syndrome with concomitant Usher syndrome. Methods: A 24-year-old lady with a diagnosis of Ellis–van Creveld syndrome came to our attention in 2015 complaining of nyctalopia. She underwent yearly ophthalmologic examinations, including visual acuity, dilated fundoscopy, optical coherence tomography and colour fundus photography. Results: On the day of her first examination, her visual acuity was 20/20, whereas fundus examination revealed diffuse peripheral retinal atrophy with pigmented bone spicules, waxy pallor of the disc and macular sparing in both eyes, compatible with retinitis pigmentosa. Due to the severe retinitis pigmentosa phenotype for the age and the concomitant neurosensory hearing loss, ancillary electrophysiological and genetic tests were requested. At the end of follow-up, visual function remained stable, with electroretinogram tests confirming the peripheral dysfunction. Interestingly, next generation sequencing test revealed a mutation in USH2A gene, suggestive of an overlapping Usher syndrome. On optical coherence tomography angiography, all plexuses appeared altered, with some degree of impairment also in the choriocapillaris of the spared macula. Conclusion: Our report emphasizes the advantage of new genetic tests to investigate atypical presentations of known retinal disorders found in syndromic settings. In addition, we speculate that the underlying ciliopathy might possibly aggravate the phenotype of this case of Usher syndrome.

Purpose: To evaluate the efficacy and the rate of side effects of the pegylated aptamer pegaptanib in the treatment of patients with choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD) and a history of previous arterial thromboembolic events (ATEs). Methods: Twenty-three eyes of 23 patients with subfoveal CNV due to AMD and cerebrovascular accidents (n = 12) and myocardial infarction (n = 11) in the previous 6 months received intravitreal pegaptanib 0.3 mg according to a pro re nata regimen and were followed for 12 months. The paired Student t test was used to evaluate mean changes in best-corrected visual acuity (BCVA; primary outcome measure) and central foveal thickness (CFT). Results: The mean patient age was 71.5 ± 4.6 years; there were 14 women and 9 men. The CNV was type 1, 2, and 3 in 18, 3, and 2 eyes, respectively. The mean BCVA improved from 0.67 ± 0.23 logMAR at baseline to 0.52 ± 0.31 logMAR at the end of 12-month follow-up (p = 0.044). Thirty-five percent of patients achieved ≥3 Early Treatment Diabetic Retinopathy Study lines improvement at 12 months. Mean CFT at baseline (381 ± 111 µm) decreased to 304 ± 82 µm at 12 months (p = 0.008). Patients received a mean of 4.3 ± 1.3 (range 3-7) injections. No systemic or ocular side effects occurred; no patient experienced further ATEs. Conclusions: Intravitreal pegaptanib can be considered a viable treatment option for patients with AMD-related CNV who are at high risk of ATEs.

Purpose To describe a case of bilateral choroidal neovascularization (CNV) in multifocal choroiditis (MFC) associated with dabrafenib and trametinib chemotherapy for metastatic melanoma. Case We present a case of a 57-year-old man with MFC who underwent combination therapy with dabrafenib plus trametinib for metastatic melanoma. The patient presented to our ophthalmology department complaining of bilateral vision loss of 2 days’ duration. He underwent multimodal imaging showing a MFC reactivation complicated by bilateral CNV. The patient underwent 3 ranibizumab injections in the right eye and 7 ranibizumab injections in the left eye. Anatomical and functional improvement has been observed. Conclusions This report emphasizes the importance of strict ophthalmologic follow-up in patients with metastatic melanoma treated with dabrafenib plus trametinib since rare severe ocular toxicities can occur, especially in patients with a history of uveitis.

Purpose TO report a case of retinopathy secondary to malignant hypertension showing a macular star, which responded favorably to a single intravitreal injection of bevacizumab (IVB). Methods A 46-year-old man with malignant hypertension showing incomplete macular star in his right eye with best-corrected visual acuity (BCVA) of 20/32 underwent IVB. Results Subsequent examinations revealed a progressive resolution of the macular star with functional recovery over the follow-up. In particular, at the 9-month examination BCVA was 20/20, fundus biomicroscopy disclosed resolution of the macular star, and the retinal sensitivity improved remarkably. Conclusions Intravitreal injection of bevacizumab can be a useful approach to treat the exudative manifestations of malignant hypertension.

Purpose To report the near-infrared fundus autofluorescence (NIR-FAF) pattern in 2 cases of multiple evanescent white-dot syndrome (MEWDS). Methods Three consecutive patients with MEWDS underwent a complete ophthalmologic examination, including color photograph, blue-light fundus autofluorescence, NIR-FAF, fluorescein angiography, and indocyanine green angiography (ICGA). Main outcome measure was the identification of NIR-FAF pattern. Results Fluorescein angiography showed patchy hyperfluorescence of the whitish dots. Indocyanine green angiography showed hypofluorescent spots throughout the examination. Blue-light fundus autofluorescence disclosed a speckled pattern without extension to the foveal area, whereas NIR-AF showed several hypoautofluorescent lesions involving also the fovea, which corresponded to the whitish dots visible on biomicroscopy and to the hypofluorescent lesions detectable on ICGA. Conclusions Near-infrared fundus autofluorescence is characterized by hypoautofluorescent spots corresponding to the inflammatory lesions typical of MEWDS and can be considered as a valuable noninvasive technique to diagnose and monitor patients with MEWDS.

Purpose Dome-shaped macula (DSM) has been described recently as an inward convexity of the macula typical of myopic eyes detectable on spectral-domain optical coherence tomography (SD-OCT). The authors describe a case of monolateral DSM associated with Best vitelliform macular dystrophy (VMD). Methods Case report. Results A 60-year-old man already diagnosed with VMD in vitelliruptive stage underwent SD-OCT that revealed the typical vitelliform material accumulation associated in the left eye with a convex elevation of the macula. No change was registered over a 1-year follow-up. Conclusions This is the first report describing a monolateral DSM associated with VMD. Dome-shaped macula could be considered as a nonspecific scleral alteration, probably due to increased scleral thickness, which can accompany many retinal disorders.

Purpose: To report a case of central retinal vein occlusion (CRVO) following cannabis smoke inhalation in a young patient. Methods: An otherwise healthy 18-year-old man without risk factors for retinal vein occlusion presented with reduced visual acuity (20/200) secondary to CRVO following cannabis smoke inhalation. Central retinal vein occlusion was diagnosed on the basis of slit-lamp fundus biomicroscopy and fluorescein angiography. Results: Tests for systemic causes were negative. Following one intravitreal dexamethasone implant (Ozurdex) and one ranibizumab injection (Lucentis), functional (20/20 visual acuity) and anatomic improvement was recorded. Fluorescein angiography showed a decrease in the vascular caliber and tortuosity, with no signs of retinal ischemia or edema. Conclusions: We report CRVO in a young adult following cannabis smoke inhalation. Its occurrence immediately after cannabis smoking further supports a link between the use of cannabis and vascular alterations.

Purpose To describe the current management of diffuse diabetic macular edema (DDME). Methods Review and discussion of the literature regarding DDME. Results Diffuse diabetic macular edema is a condition that can be managed by means of several treatment options, including focal/grid laser photocoagulation, intravitreal or periocular corticosteroids, intravitreal anti-vascular endothelial growth factor (VEGF), and vitrectomy with or without internal limiting membrane peeling. Conclusions Even though there is no randomized clinical trial specifically designed to assess the best treatment approach for DDME, new therapeutic approaches based on intravitreal injections of corticosteroid and anti-VEGF molecules offer new hope for its management.

PURPOSE. Nephrotic syndrome is a kidney disorder characterized by loss of different plasmatic proteins resulting in different peripheral tissue edemas. No ocular complications have been reported in nephrotic syndrome secondary to primary glomerular disease. METHODS. A 24-year-old woman was referred to emergency service for acute generalized edema,. associated with bilateral visual impairment and metamorphopsia. A diagnosis of nephrotic syndrome was made. The patient was treated with diuretic therapy. RESULTS. At first ophthalmologic evaluation, the woman presented best-corrected visual acuity of 20/32 in the right eye and 20/40 in the left eye and a dome-shaped bilateral neurosensorial retinal detachment and macular edema studied with spectral-domain optical coherence tomography. The patient underwent furosemide treatment. At follow-up evaluation 6 days later, best-corrected visual acuity improved to 20/20 in both eyes and restoration of normal retinal anatomy was demonstrated. CONCLUSIONS. Sequestration of interstitial fluids, which leads to classic generalized edema in nephrotic syndrome, could be the origin of interstitial accumulation of fluids in the retinal layers.

Purpose To describe a rare adverse event characterized by anterior ischemic optic neuropathy (AION) associated with central retinal artery occlusion (CRAO) followed by central retinal vein occlusion (CRVO) secondary to treatment with intravitreal injection of ranibizumab for diabetic macular edema (DME). Methods A patient with DME refractory to focal grid laser photocoagulation in the left eye was prospectively followed and treated with intravitreal injection of ranibizumab. Over a 12-month period and after 4 injections, best-corrected visual acuity (BCVA) improved from 20/63 to 20/50 (Snellen equivalent) and central retinal thickness (CRT) reduced from 551 to 279 μm. In July 2009, BCVA dropped to 20/100 with CRT of 421 μm due to the recurrence of DME and a further injection was administered. Results One month later, the left eye showed a sudden visual acuity loss. Best-corrected visual acuity was 20/400 and the fundus examination revealed a hyperemic and swollen optic disc, with several retinal hemorrhages. Retina at the posterior pole was pale, with attenuation and sheathing of arterial vessels. Fluorescein angiography showed a delayed optic disc and arterial filling with retinal ischemia involving both posterior pole and periphery and confirmed the diagnosis of AION associated with CRAO. One month later, the BCVA decreased to 20/800, and fundus examination evidenced a CRVO with diffuse retinal hemorrhages in the 4 quadrants, congestion, and tortuosity of the retinal veins. Conclusions Although severe ocular adverse events are generally rare, patients receiving intraocular anti-vascular endothelial growth factor injection should be monitored carefully for the development of vascular complications.

Purpose To describe autofluorescence, microperimetry, and electrophysiology findings in a case of macular congenital hypertrophy of the retinal pigment epithelium (CHRPE). Methods A 58-year-old man was referred to the Department of Ophthalmology of the University of Udine for the evaluation of a pigmented macular lesion in the right eye. The patient underwent blue-light autofluorescence (BL-AF), near-infrared autofluorescence (NIR-AF), electrooculogram, full-field electroretinogram and multifocal electroretinogram (mfERG), microperimetry, computerized visual field, and optical coherence tomography (OCT). Results BL-AF performed using Heidelberg Retinal Angiograph II revealed a homogeneous hypoautofluorescence, surrounded by a hyperautofluorescent halo. NIR-AF showed a heterogeneous response combining an increased signal in the center of the lesion bordered by a decreased and darker signal. Electrooculogram and full-field electroretinogram were normal in both eyes. mfERG revealed only a limited area of reduced function in the right eye, which matched to location of CHRPE. The segments most functionally altered on mfERG corresponded to the area showing an increased signal in the NIR-AF, possibly reflecting the presence of increased pigment density within a more viable retinal pigment epithelium-Bruch membrane complex. Conclusions In essence, macular CHRPE is associated with slight defect in retinal sensitivity and outer retinal dysfunction secondary to the anatomic changes characteristic of the lesion.

Purpose To propose a possible treatment for symptomatic serous pigment epithelium detachment (SPED) in the setting of dry age-related macular degeneration. Methods A 60-year-old woman presented with a SPED, subfoveal in location, enlarging in size and with gradually worsening vision over 1 year of follow-up, without any evidence of choroidal neovascular membrane or neurosensory detachment until it was treated with subthreshold micropulse laser. Results The last follow-up showed complete resolution of the SPED with restoration of visual function. Conclusions Subthreshold micropulse laser could serve as a useful therapeutic modality for the treatment of symptomatic SPED.