Faculty Bibliography

PURPOSE/OBJECTIVE:To describe resolution of a subfoveal choroidal cavern after half-dose verteporfin photodynamic therapy for persistent central serous chorioretinopathy. METHODS:Case report. RESULTS:A 43-year-old man was referred for treatment of chorioretinopathy in his left eye. On presentation, swept-source optical coherence tomography demonstrated a serous retinal detachment and a 161-μm-thick subfoveal choroidal cavern showing a characteristic tail of hypertransmission extending posteriorly. Subfoveal choroidal thickness measured 456 μm in the affected eye. Complete resolution of subretinal fluid and the subfoveal choroidal cavern were observed 3 months after half-dose verteporfin photodynamic therapy. Twelve months after treatment, subfoveal choroidal thickness had decreased further to 276 μm, and visual acuity had improved to 20/15. CONCLUSION/CONCLUSIONS:After half-dose verteporfin photodynamic therapy for chorioretinopathy, resolution of subretinal fluid was accompanied by resolution of a subfoveal choroidal cavern at 3 months and a 39.5% reduction in subfoveal choroidal thickness at 1 year.

PURPOSE/OBJECTIVE:To report a case of IgG4-related ophthalmic disease, which presented with papillitis and subretinal deposits. METHODS:Observational case report with multimodal imaging. RESULTS:A 52-year-old man with a history of persistent lymphadenopathy presented with decreased vision in his left eye. Funduscopic examination demonstrated cuticular drusen in both eyes and florid edema of the left optic nerve, along with scattered circumscribed grey-yellow subretinal deposits that were distinct from the cuticular drusen. Swept-source optical coherence tomography demonstrated a hyper-reflective subretinal material corresponding to the grey-yellow subretinal deposits on clinical examination along with diffuse outer retinal disruption. Fundus autofluorescence revealed scattered hypoautofluorescence corresponding to cuticular drusen and also larger patches of hypoautofluorescence corresponding to the grey-yellow subretinal deposits. Fluorescein angiography demonstrated hypofluorescence corresponding to the large subretinal deposits and leakage at the optic nerve. Lymph node biopsy demonstrated IgG4-positive plasma cells and elevated serum IgG4 levels leading to a diagnosis of IgG4-related ophthalmic disease. The patient was treated with oral prednisone with subsequent resolution of the optic nerve edema. CONCLUSION/CONCLUSIONS:We describe multimodal imaging of unique retinal and optic nerve findings associated with IgG4-related ophthalmic disease. Our report broadens the spectrum of ocular involvement associated with IgG4-related disease.

PURPOSE/OBJECTIVE:To describe the vascular anatomy and intraluminal flow characteristics of segmental retinal arteritis (SRA) using structural and angiographic optical coherence tomography (OCT). METHODS:Retrospective case series of consecutive patients presenting with SRA. All patients were evaluated at presentation with fundus photography, spectral domain OCT, and OCT angiography. One patient was imaged with dense B-scan OCT angiography. RESULTS:Three eyes of three male patients were evaluated. All examinations were consistent with reactivation of ocular toxoplasmosis with an area of active retinochoroiditis adjacent to a focal chorioretinal scar. Spectral domain OCT through areas of SRA noted on clinical examination demonstrated areas of hyperreflectivity circumscribing the affected vessel with a normoreflective lumen. Optical coherence tomography angiography and dense B-scan OCT angiography demonstrated narrowing of the intraluminal flow signal that correlated with areas of segmental hyperreflectivity on spectral domain OCT. Vascular sections proximal and distal to areas of SRA showed normal flow signal. CONCLUSION/CONCLUSIONS:Vessels with SRA demonstrated hyperreflectivity highlighting the vessel wall on spectral domain OCT. Optical coherence tomography angiography showed narrowing of the flow signal within these segments suggesting reduced lumen diameter. Coupling these finding with previous indocyanine green imaging findings in SRA, the collective data suggest the plaques are localized within the vessel wall to either the endothelium or the muscular tunica media without occlusion of the vessel lumen.

PURPOSE/OBJECTIVE:To describe three patients with idiopathic multifocal choroiditis (MFC) who showed foci of foveal outer retinal hyperreflectivity on optical coherence tomography. METHODS:Retrospective review of electronic health records and multimodal imaging from three patients with MFC. RESULTS:Three consecutive white patients with MFC (two male and one female) presented with unilateral foveal outer retinal hyperreflectivity in the eye with active MFC. In all cases, the lesions persisted for at least 1 month. Optical coherence tomography demonstrated finger-like projections of hyperreflectivity extending from the retinal pigment epithelium and through disrupted interdigitation and ellipsoid zones into the outer nuclear layer, with some aspects of the lesions reaching the inner limiting membrane. Visual recovery varied in the three affected eyes. CONCLUSION/CONCLUSIONS:Foveal outer retinal hyperreflectivity is a novel optical coherence tomography finding in eyes with active MFC. Additional studies will be required to address the prevalence and prognostic importance of foveal outer retinal hyperreflectivity.

PURPOSE/OBJECTIVE:To describe a case of symptomatic outer retinal disruption in a patient heterozygous for the p.Leu154Pro interphotoreceptor matrix proteoglycan-1 (IMPG1) mutation implicated in adult-onset foveomacular vitelliform dystrophy. METHODS:Observational case report. RESULTS:We describe a case of a 25-year-old female patient with symptomatic scotoma and vision decrease who exhibited bilateral small foveal yellow spots. Optical coherence tomography revealed disorganization and decreased reflectance of the foveal ellipsoid and interdigitation zones in the left eye more than in the right eye. Fundus autofluorescence imaging showed minimal findings, and dye angiography was unrevealing. Multifocal electroretinogram revealed slightly decreased retinal sensitivity in the central retina of the left eye. Genetic testing identified a heterozygous p.Leu154Pro mutation in the IMPG1 gene. CONCLUSION/CONCLUSIONS:The p.Leu154Pro IMPG1 mutation may cause symptomatic outer retinal disturbance in the heterozygous state. Further studies are necessary.

PURPOSE/OBJECTIVE:To describe the occurrence of an acquired choroidal nevus in a 73-year-old white man. METHODS:Case report. RESULTS:A 73-year-old white man was referred for an evaluation and treatment of macular changes in his left eye consistent with pachychoroid neovasculopathy. Baseline funduscopic examination and color fundus photographs showed two small peripheral choroidal nevi in the right eye and a single small choroidal nevus in the far temporal macula of the left eye. Treatment with intravitreal aflibercept was initiated in the left eye on a treat-and-extend dosing regimen. Approximately 1 year later, a new pigmented choroidal lesion was detected in the left macula in an area where previous high-resolution color fundus photographs had shown no abnormal pigmentation. Swept-source optical coherence tomography of the new pigmented lesion showed flat hyperreflectivity within the inner choroid consistent with a small choroidal nevus. The patient was referred to his internist who found no evidence of an occult malignancy. Over the course of more than 4 additional years of continuous follow-up, the new choroidal nevus remained stable, no new fundus abnormalities were detected in either eye, and the patient remained medically stable. CONCLUSION/CONCLUSIONS:To the best of our knowledge, this is the first documented case of a new choroidal nevus. Multimodal imaging performed before lesion detection and over the ensuing 4 years showed its stability, thus allowing for the conclusion that it was a benign choroidal nevus rather than a neoplastic or paraneoplastic process.

PURPOSE/OBJECTIVE:To report a detachment that apparently separated photoreceptor inner segment myoids from inner segment ellipsoids as a manifestation of toxoplasmosis chorioretinitis in a patient with pachychoroid spectrum disease. METHODS:Multimodal imaging including fundus photography, spectral domain and enhanced-depth imaging optical coherence tomography (OCT), indocyanine green angiography, and OCT angiography. RESULTS:A 33-year-old man with a history of toxoplasmosis chorioretinitis reported 1 week of decreased vision to 20/200 in his right eye. Examination of the right eye demonstrated mild vitritis with recurrent chorioretinitis inferior to the fovea and adjacent to a chorioretinal scar. A dome-shaped, foveal photoreceptor layer-splitting detachment was noted on OCT. Because degenerating cone photoreceptors are capable of shedding their inner segments, we inferred the location of the detachment at the level of the inner segment myoid and provided a histological example of such from an unrelated donor case. In addition, multimodal imaging revealed dilated choroidal veins (pachyvessels) with attenuation of the inner choroid in both eyes and asymptomatic findings of central serous chorioretinopathy in the left eye. After 1 month of antibiotic and steroid therapy, the chorioretinitis resolved, as did the detachment. Hyperreflective foci on the vitreoretinal interface were appreciated with en face OCT that appeared to aggregate throughout the course of therapy, induce inner retinal striae, and resolve without inducing epiretinal membrane formation. CONCLUSION/CONCLUSIONS:Patients with preexisting pachychoroid spectrum disease may manifest a more significant retinal fluid accumulation in the setting of superimposed chorioretinal inflammation. In this case of macular toxoplasmosis chorioretinitis, inflammation manifested as a retinal detachment at the level of photoreceptor inner segment myoids that we named as a bacillary layer detachment. In this case, inflammatory sequelae of toxoplasmosis reactivation responded well to oral and intravitreal therapy.

PURPOSE/OBJECTIVE:To report a retinal pigment epithelium (RPE) tumor with exudative maculopathy, originating from an atypical RPE lesion presumed to represent congenital hypertrophy of the RPE or RPE hyperplasia. METHODS:Multimodal imaging including fundus autofluorescence, optical coherence tomography, fluorescein angiography, and optical coherence tomography angiography. RESULTS:A 76-year-old West African man noted visual acuity reduction to count fingers in the right eye and 20/400 in the left eye. Features of chronic glaucoma were noted. In addition, there was a fairly well-circumscribed darkly pigmented RPE lesion in the paramacular region in the right eye, measuring 4 mm in diameter and flat and consistent with atypical congenital hypertrophy of the RPE or RPE hyperplasia. On the posterior margin of this mass was an RPE tumor, presumed to represent RPE adenoma, producing exudative maculopathy and cystoid macular edema. Multimodal imaging was used to distinguish the RPE tumor from macular neovascularization. A similar atypical congenital hypertrophy of the RPE without retinopathy measuring 3.5mm in diameter was noted in the temporal macular region in the left eye. After six monthly doses of intravitreal bevacizumab (1.25 mg/0.05 mL) in the right eye, the maculopathy resolved and the RPE mass showed partial involution with visual acuity return to baseline 20/200. CONCLUSION/CONCLUSIONS:Congenital hypertrophy of the RPE and RPE hyperplasia can produce RPE adenoma with related exudative maculopathy. In this case, the maculopathy responded to bevacizumab.

PURPOSE/OBJECTIVE:To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene. METHODS:Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS. RESULTS:Clinical examination and multimodal imaging documented focal outer retinal and retinal pigment epithelium changes including bilateral foveal stippling and a circular area of hypopigmentation in the superior macula of the left eye. Optical coherence tomography showed a linear area of outer retinal attenuation superonasal to the fovea and multiple foci of pinpoint outer retinal defects in the temporal macula of the left eye. Humphrey visual field 24-2 testing showed nonspecific defects in both eyes. Full-field electroretinography showed no evidence of a generalized retinal dysfunction. CONCLUSION/CONCLUSIONS:Recognition that the chorioretinal abnormalities occurring in BNS can be rather subtle is essential because the diagnosis of BNS may depend on their detection. To the best of our knowledge, this is the first report in the ophthalmic literature of mild chorioretinal changes in a patient with BNS testing positive for a mutation in the PNPLA6 gene.

Purpose/UNASSIGNED:Basal laminar deposit (BLamD) is a consistent finding in age-related macular degeneration (AMD). We quantified BLamD thickness, appearance, and topography in eyes of aged donors with and without AMD and evaluated its relationship to other components of the retinal pigment epithelium-basal lamina/Bruch's membrane (RPE-BL-BrM) complex. Methods/UNASSIGNED:Donor eyes (n = 132) were classified as normal (n = 54), early to intermediate AMD (n = 24), geographic atrophy (GA; n = 13), and neovascular AMD (NV; n = 41). In high-resolution histology, we assessed RPE, BLamD, and BrM thicknesses and phenotypes at 3309 predefined locations in the central (foveal and perifovea) and superior (perifoveal) sections. Pre-mortem optical coherence tomography (OCT) imaging of a 90-year-old woman was compared to postmortem histopathology. Results/UNASSIGNED:In non-atrophic areas of AMD eyes, the RPE-BLamD is thick (normal = 13.7 µm, early-intermediate = 16.8 µm, GA = 17.4 µm, NV = 18.7 µm), because the BLamD is thick (normal = 0.3 µm, early-intermediate = 5.5 µm, GA = 4.1 µm, NV = 5.3 µm). RPE layer thickness is similar across these stages. Disease-associated variants of BLamD (thick, late, basal mounds) cluster subfoveally. A thick BLamD is visible on OCT as a hyporeflective split in the RPE-BL-BrM complex. BrM is thin (3.5 µm) in NV (normal = 4.2 µm, early to intermediate = 4.4 µm, and GA = 4.2 µm). Conclusions/UNASSIGNED:The RPE-BL-BrM complex is thick in AMD, driven by the accumulation and expansion of BLamD rather than expansion of either three-layer BrM, RPE-BL, or RPE. BLamD is clinically appreciable by OCT in some patients as a non-neovascular "split RPE-BL-BrM complex" or "double-layer sign." BLamD may contribute toward the formation and progression of high-risk drusen yet also exhibit protective properties.