Faculty Bibliography

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/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:To investigate the utility of optical coherence tomography angiography (OCTA) for detecting pathologic vascularization within pigment epithelial detachments (PEDs). METHODS:This was a retrospective, cross-sectional, consecutive case series. Multimodal imaging (structural OCT, fluorescein, and indocyanine green angiography) was used as the gold standard to classify PEDs as nonvascularized or vascularized. Optical coherence tomography angiography imaging of the PED was subsequently and independently evaluated to classify PEDs as vascularized or nonvascularized. Specifically, OCTA images were evaluated for the presence of abnormal flow on cross-sectional OCTA and the presence of a vascular complex on en face OCTA. Comparisons between OCTA and the gold standard were determined. RESULTS:Sixty-four eyes of 49 patients were evaluated. A total of 18 eyes were classified as nonvascularized PED, and 46 eyes were classified as vascularized PED using the gold standard. Optical coherence tomography angiography was found to have a sensitivity of 76%, specificity of 61%, positive predictive value of 83%, and negative predictive value of 50% for detecting vascularized PEDs. False positive cases in the nonvascularized PED group were due to projection or flow artifacts from hyperreflective material overlying the PED. False negative cases were seen in eyes with minimal exudation on structural OCT and also those manifesting retinal pigment epithelial tears. CONCLUSION/CONCLUSIONS:Our proposed two-step approach of OCTA interpretation, first using cross-sectional OCTA and then en face OCTA, may allow the detection of vascularization within PEDs and, in some cases, reduce the need for conventional angiography. Increased awareness about potential artifacts and limitations of OCTA may help clinicians interpret OCTA more accurately.

PURPOSE/OBJECTIVE:To analyze the changes in visual acuity and subfoveal choroidal thickness in patients with non-neovascular age-related macular degeneration (AMD) and drusenoid pigment epithelium detachments (PED). DESIGN/METHODS:Consecutive observational case series. METHODS:Observational retrospective review of eyes diagnosed with drusenoid PED in a single clinical setting. Demographic and clinical data included age, gender, laterality, best corrected visual acuity (BCVA) and subfoveal choroidal thickness measured at baseline, before and after the collapse of the PED, and at the last available follow-up. The presence of geographic atrophy (GA) was also assessed. RESULTS:Thirty-seven eyes of 25 patients (18 females) were included in the analysis. Mean age at baseline was 71 ± 8.4 years. During a mean follow-up period of 4.9 ±1.9 years, PED collapse was observed in 25 eyes (68%). Mean BCVA, mean maximum PED height and mean subfoveal choroidal thickness significantly decreased from baseline to the last available follow-up (p<0.001) in patients showing PED collapse. Choroidal thinning was faster during the PED collapse (speed rate of 35.9 microns/year). From those, 23 eyes (92%) developed GA. A significant correlation between the area of GA and the decrease in choroidal thickness was found (p=0.010). CONCLUSIONS:Choroidal thickness significantly decreased in eyes showing drusenoid PED collapse, but not in eyes in which the PED persisted. A significant correlation with resultant GA area following PED collapse and the magnitude of choroidal thinning was found. Further studies are warranted to better understand the mechanisms involved in the occurrence of choroidal changes during the lifecycle of drusenoid PEDs.

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.