Faculty Bibliography

BACKGROUND AND OBJECTIVE/OBJECTIVE:To use quantitative fundus autofluorescence (qAF) to analyze different stages of non-neovascular age-related macular degeneration (AMD). PATIENTS AND METHODS/METHODS:In this cohort study, 38 pseudophakic patients and 36 age-matched controls participated. We performed near-infrared, spectral-domain optical coherence tomography and qAF imaging on 31 pseudophakic eyes and controls of participants older than 60 years with non-neovascular AMD phenotypes using the Spectralis HRA + OCT (Heidelberg Engineering, Heidelberg, Germany). RESULTS:The patients included in this study had a mean age of 83.9 years, and 35.7% patients were men. Mean qAF was higher in control participants than in all patients with AMD (P < .001). According to non-neovascular AMD phenotype, mean qAF levels were significantly lower in eyes with subretinal drusenoid deposits than in control eyes (P < .05). The lowest mean qAF was in patients with geographic atrophy. CONCLUSION/CONCLUSIONS:Quantitative fundus autofluorescence of non-neovascular AMD decreases from normal to early to late AMD, suggesting that loss of lipofuscin fluorophores, not increase, signifies AMD progression. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:S34-S42.].

PURPOSE/OBJECTIVE:To report the posterior segment and retinal vascular manifestations of calcific uremic arteriolopathy (calciphylaxis). Clinical findings are correlated with multimodal imaging results. METHODS:Observational case report. RESULTS:A 65-year-old white woman on hemodialysis was referred for assessment of poor vision bilaterally. Clinical examination demonstrated a crystalline retinopathy with stigma of previous retinal arterial occlusion. Fluorescein angiography revealed delayed retinal arterial filling bilaterally, sheathing of vessels, and peripheral nonperfusion. The crystals were hyperautofluorescent. Spectral domain and enhanced depth imaging optical coherence tomography localized the crystals within the retina with a predilection for the retinal arterial vasculature. The choriocapillaris was not involved. Two years prior, the patient developed necrotic skin lesions which were biopsied and confirmed the diagnosis of calciphylaxis. CONCLUSION/CONCLUSIONS:Calcific uremic arteriolopathy is an extremely rare cause of thrombogenic microangiopathy in end-stage renal disease patients. Retinal arterial occlusion appears to be a rare but significant cause of visual loss in this disease and is likely to be consequent to crystalline deposition in the retinal vasculature.

Purpose/UNASSIGNED:To report the clinical course and multimodal imaging features of acute zonal occult outer retinopathy (AZOOR) complicated by choroidal neovascularization (CNV) treated with anti-vascular endothelial growth factor (VEGF) treatment or photodynamic therapy (PDT). Methods/UNASSIGNED:Observational case series. Retrospective analysis of patients presenting to different institutions with evidence of AZOOR and neovascular lesions. Diagnosis of AZOOR was made on the basis of clinical presentation and multimodal imaging. All patients underwent a comprehensive ophthalmic evaluation and multimodal retinal imaging, including color fundus photos, fundus autofluorescence, fundus fluorescein angiography and spectral-domain optical coherence tomography. Results/UNASSIGNED:Four patients (three males, mean age 53.5 years) were included in the study. Mean follow-up was 5.1 years. Presentation of AZOOR was unilateral in two patients and bilateral in the remainder two patients. One of the patients presenting with unilateral AZOOR developed zonal lesions in the fellow eye during follow-up. All patients presented with unilateral type 2 (subretinal) CNV. Three patients underwent intravitreal anti-VEGF injections and one patient underwent a single PDT. Multimodal retinal imaging showed zonal or multizonal progression during treatment. After treatment, visual acuity and CNV stabilization was observed in all patients. Conclusions/UNASSIGNED:The presence of CNV expands the clinical spectrum of AZOOR. CNV complicating AZOOR may be effectively treated with intravitreal injections of anti-VEGF, despite progression of the zonal lesions. Further studies are required to define the role of treatment in the progression of the zonal lesions.

PURPOSE/OBJECTIVE:To investigate the deep retinal vascular changes potentially present in macular telangiectasis Type 2 (MacTel 2) with projection resolved optical coherence tomography angiography including volume rendering. METHODS:Retrospective consecutive evaluation of patients with MacTel 2 in a community-based retinal referral practice with a comprehensive ophthalmologic examination to include optical coherence tomography and projection-resolved optical coherence tomography angiography with volume rendering. Main outcome measures were the characterization of vessel presence and anatomical arrangement in the outer retina. RESULTS:There were 26 eyes of 13 patients with a mean age of 64.9 (±11.3) years, and 6 were men. The mean visual acuity was logMAR 0.4 (Snellen equivalent 20/50). No eye had signs of choroidal neovascularization or exudation. Focal hyperpigmentation was seen in 13 (50%) and right-angle veins in 17 (65%) eyes. Retinal-choroidal anastomoses were seen in 17 (65%) eyes. These anastomoses typically occurred in multiple clusters of small vessels. The presence of anastomoses was associated with pigment (P < 0.001), although the anastomoses did not necessarily colocalize with the pigment, and right-angle veins (P < 0.001), which were found in every eye with a retinal-choroidal anastomosis. CONCLUSION/CONCLUSIONS:Retinal-choroidal anastomoses were commonly observed in eyes with MacTel 2 using projection-resolved optical coherence tomography angiography. One animal model for MacTel 2 uses very low-density lipoprotein receptor mutant mice and shows multiple retinal-choroidal anastomoses in the disease pathogenesis as well. These findings suggest MacTel 2 is more than just a neurodegenerative disease with secondary vascular abnormalities, as the choroid may be involved in the disease process.

PURPOSE/OBJECTIVE:Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multi-modal retinal imaging to elucidate genotype-phenotype relationships in EYS-related RP (EYS-RP). DESIGN/METHODS:Cross-sectional study. METHOD/METHODS:Multimodal retinal imaging and electrophysiologic testing was assessed for 16 patients with genetic confirmation of EYS-RP. RESULTS:A total of 27 unique EYS variants were identified in 16 patients. Seven patients presented with an unusual crescent-shaped hyperautofluorescent (hyperAF) ring on fundus autofluorescence (FAF) imaging encompassing a large nasal-superior area of the posterior pole. Three patients had a typical circular or oval perifoveal hyperAF ring and six patients had no hyperAF ring. Spectral domain optical coherence tomography (SD-OCT) and en face OCT showed preserved ellipsoid zone and retinal thickness spatially corresponding to areas within the hyperAF rings. Eleven patients presented with a rod-cone dystrophy on full-field electroretinogram (ffERG), one patient presented with cone-rod dystrophy, and four patients did not undergo ERG testing. A significant spatial association was found between EYS variant position and autofluorescent phenotype, with variants occurring at a nucleotide position greater than GRch37 6:65300137 (c.5617C) being more associated with patients exhibiting autofluorescent rings at presentation. CONCLUSIONS:EYS-RP is a heterogeneous manifestation. Variants occurring in positions closer to the C-terminus of EYS are more common in patients presenting with autofluorescent rings on FAF imaging.

The term aneurysmal type 1 neovascularization is derived from terminology, which is established in the literature but has fallen out of use. We believe that aneurysmal type 1 neovascularization accurately describes the lesions which define the entity known as polypoidal choroidal vasculopathy (PCV). Over the last three decades, the clinical spectrum of PCV has expanded to recognize the occurrence of the aneurysmal (polypoidal) lesions in different contexts, resulting in a complex and unwieldy taxonomy based sometimes on circumstantial findings rather than mechanistic considerations. Advances in multimodal imaging provides increasingly convincing evidence that the lesions which define various forms of PCV are indeed vascular and arise from type 1 neovascular networks. The understanding of PCV as type 1 neovascularization with aneurysms renews focus on the question as to why some patients with type 1 neovascularization develop aneurysms while others do not. Conceptual themes and potential for further study are discussed.