Faculty Bibliography

PURPOSE: To evaluate geographic atrophy (GA) progression in eyes with dry AMD and to determine factors related to GA expansion, notably reticular pseudodrusen (RPD), also known as subretinal drusenoid deposits (SDD) or reticular macular disease (RMD). METHODS: This was a retrospective cohort study of patients with dry AMD who were diagnosed with GA in at least one eye and were imaged with sequential fundus autofluorescence (FAF) and/or near infrared reflectance (NIR-R) imaging. Images were analyzed for the presence of GA within the macular region. Geographic atrophy progression was measured in the fields of a modified Wisconsin grid and spatially correlated with RPD. Factors also evaluated for association with GA progression included initial GA size and pattern. RESULTS: The study sample included 126 eyes of 92 patients, with an average follow up of 20.4 months (SD = 11.7). At baseline, 93.6% of eyes had RPD, and the average GA area was 2.8 mm(2) (SD = 2.9). The average GA progression rate was 0.8 mm(2)/y (SD = 0.6), with a statistically significant difference between the unilobular and multilobular phenotype groups (0.3 mm(2)/y vs. 0.9 mm(2)/y, P = 0.02). Patients in the lower 50th percentile of initial GA area had a lower progression rate than patients in the upper 50th percentile (0.6 mm(2)/y vs. 1.1 mm(2)/y, P < 0.001). Geographic atrophy progression was more frequent in fields with RPD than in those without RPD (74.2% vs. 41.7%, P < 0.001). CONCLUSIONS: The high correlation between the presence of RPD (also known as SDD or RMD) and the presence of GA, and the expansion of GA into areas with these lesions suggest that they are an early manifestation of the process leading to GA.

IMPORTANCE New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. OBJECTIVE To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. DESIGN Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012. SETTING Academic and private ophthalmology practices specialized in retinal dystrophies. PARTICIPANTS A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations. INTERVENTION Patients had ophthalmic examinations including visual function testing that led to the original diagnosis. MAIN OUTCOMES AND MEASURES New fundus features captured with imaging modalities. RESULTS New clinical observations in ESCS include (1) torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably sized and predominantly located along the arcades; (2) circumferential fibrotic scars in the posterior pole with a spared center and large fibrotic scars around the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing retina. CONCLUSIONS AND RELEVANCE Enhanced S-cone syndrome has more pleiotropy than previously appreciated. While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and "torpedo-like" lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis.

BACKGROUND: Acute zonal occult outer retinopathy (AZOOR) was described by Gass in 1992 as an independent posterior uveitis characterized by photopsias and rapid visual field zonal loss, with 70% of cases stabilizing within 6 months, although there is a paucity of long-term documentation of AZOOR cases. METHODS: The authors reported the case of a 55-year-old woman diagnosed with AZOOR and followed for 13 years. RESULTS: Best-corrected visual acuity at baseline was 20/60 in her right eye and 20/25 in her left eye, with an annular peripapillary area of irregular retinal thickening and temporal visual field loss in both eyes. Over her 13-year follow-up, best-corrected visual acuity dropped to 20/60 in both eyes and visual field loss because of chorioretinal atrophy progressed significantly. Antiviral and immunomodulatory drugs did not halt this progression. CONCLUSION: The prognosis of cases with AZOOR should be cautiously considered. The authors showed that in the long term, chorioretinal atrophy may lead to severe visual field loss in patients with AZOOR.

PURPOSE: To describe previously unreported imaging features of choroidal lymphoma using enhanced depth imaging optical coherence tomography (OCT). METHODS: Enhanced depth imaging OCT was performed before and after the therapy. RESULTS: A 32-year-old white man with a 4-month history of blurred vision in the right eye was found to have a macular fold. There was no visible intraocular tumor. There were no signs of anterior segment inflammation, vascular abnormalities, or infiltrative disease. Visual acuity was 20/150 in the right eye and 20/20 in the left eye. Enhanced depth imaging OCT demonstrated a macular retinal fold and marked thickening of the choroid with striking choroidal surface undulation and folds imparting an appearance similar to a "sea storm" (seasick appearance). Deep choroidal structures could not be visualized, and the sclerochoroidal interface could not be identified. Overlying subretinal fluid and intraretinal fluid was noted. Ultrasonography demonstrated diffuse, relatively smooth thickening of the choroid (4.0-mm thickness) with minor extraocular hypoechoic area. Based on these findings, choroidal lymphoid proliferation was suspected, and fine-needle aspiration biopsy confirmed B-cell lymphoma. Results of systemic evaluation were unremarkable. After external beam radiotherapy with dose of 40 Gy, visual acuity returned promptly to 20/40 and the lymphoid infiltration resolved with flattening of the macular fold and resolution of subretinal and intraretinal fluids. The enhanced depth imaging OCT returned to a more normal appearance with the resolution of the retinal fold and reduction of the choroidal mass with retinal pigment epithelial-choroidal surface features to a "calm sea" appearance. CONCLUSION: Enhanced depth imaging OCT is a useful tool for subclinical monitoring of choroidal infiltration from lymphoma before and after therapy.

BACKGROUND/PURPOSE: To describe the detection of multiple choroidal lesions in a patient with Type 1 neurofibromatosis using multispectral imaging. METHODS: A 25-year-old woman diagnosed with Type 1 neurofibromatosis was examined with the Annidis-RHA system (Annidis Corp.). RESULTS: While conventional ophthalmoscopic imaging showed an unremarkable examination, multispectral imaging with red and infrared wavelengths evidenced numerous deep choroidal lesions. CONCLUSION: Multispectral imaging may detect the choroidal lesions of Type 1 neurofibromatosis that are not easily seen with clinical examination or with other imaging modalities.

PURPOSE: The purpose of this study was to report a patient with an atypical presentation of Sorsby fundus dystrophy. METHODS: Retrospective chart review. RESULTS: A 38-year-old man with a family history of Sorsby fundus dystrophy presented for ophthalmic examination. The patient had unilateral disease with an atypical appearance mimicking a pattern dystrophy. Molecular analysis of the TIMP-3 gene identified a Tyr159Cys mutation. He developed choroidal neovascularization, which was successfully treated with photodynamic therapy followed by intravitreal bevacizumab. CONCLUSION: Sorsby fundus dystrophy associated with a Tyr159Cys TIMP-3 point mutation may have a variable presentation. Intravitreal bevacizumab is useful in managing choroidal neovascularization associated with this condition.

PURPOSE: To report a case of subretinal deposits, paramacular atrophy, and pigmentary retinopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. METHODS: Retrospective review of medical records. RESULTS: A 45-year-old white woman presented with progressive deterioration of vision and dark adaptation over several years. She had a background of an undiagnosed neurodegenerative disorder, including sensorineural hearing loss, cognitive disturbance, and peripheral neuropathy. On examination, subretinal deposits were visible along the superotemporal arcades. A diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes was confirmed by genetic testing (A3243G gene mutation). Four years later, she had developed paramacular atrophy and pigmentary retinopathy. CONCLUSION: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes may be associated with paramacular atrophy and pigmentary retinopathy. Autofluorescent changes may precede these signs and can help distinguish this condition from Stargardt disease-fundus flavimaculatus. As far as we are aware, this is the first report of fundus autofluorescence imaging and optical coherence tomography in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes-associated retinopathy. Subretinal deposit may be an early sign.

Purpose. To describe the complete sequence of the progressive vasculopathy in macular telangiectasia type 2.Methods. This is a report of a case demonstrating the complete vasogenic sequence in macular telangiectasia type 2 over the course of 15 years, and representative images from a collective of 150 patients with macular telangiectasia type 2 employing fundus photography, fluorescein angiography, and optical coherence tomography.Results. Macular telangiectasia may progress along a predictable vasogenic sequence which consists of nonproliferative stages, characterized by temporal loss of macular luteopigment and inner retinal volume loss in the absence of vascular changes, followed by a progressive proliferative vasculopathy, first involving the deep capillary plexus with eventual extension of the vascular changes circumferentially in the inner retinal capillary plexus. Late proliferative stages may become indistinguishable from advanced neovascular age-related macular degeneration.Conclusions. While it is rare to observe the complete vasogenic sequence of macular telangiectasia type 2, a classification into nonproliferative and proliferative stages can be established, and may prove helpful as the mechanisms driving the pathogenic process through those stages are identified.