Faculty Bibliography

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 evaluate the subfoveal choroidal thickness (SFCT) and vascular architecture in the fellow eyes of patients with circumscribed choroidal hemangioma (CCH). METHODS:In this retrospective observational study, patients were selected from outpatient ophthalmology clinics at the Memorial Sloan Kettering Cancer Center and Vitreous Retina Macula Consultants of New York. Subfoveal choroidal thickness was measured using enhanced depth imaging spectral domain optical coherence tomography from the outer portion of Bruch membrane to the choroidal-scleral interface. Choroidal vascular architecture was qualitatively examined. The main outcome measure was SFCT in fellow eyes of patients with CCH, which was compared with an age- and gender-matched control group. RESULTS:Thirty-one fellow eyes (15 right eyes and 16 left eyes) of patients with CCH (23 males and 8 females) were examined. The fellow eye had a mean SFCT of 361.2 ± 99.9 μm compared with 252.0 ± 77.6 μm in the control group (P < 0.0001). Vascular architecture was disorganized in 13 (42%) fellow eyes and 1 (3%) control eye (P < 0.0001), with no apparent gradient of vessel sizes or discrete choroidal layers. The normal association between older age and a thinner choroid existed in control eyes but not in fellow eyes. Hemangioma thickness measured by ultrasound and the presence of subfoveal fluid in the CCH eye did not correlate with the fellow-eye SFCT. CONCLUSION/CONCLUSIONS:In patients with CCH, fellow eyes had thicker SFCT when compared with age- and gender-matched control eyes. Choroidal architecture was often irregular, without segmented vascular layers. These findings suggest that inherent choroidal changes may exist in patients with CCH.

PURPOSE/OBJECTIVE:To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS:Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS:Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. CONCLUSION/CONCLUSIONS:We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.

PURPOSE/OBJECTIVE:To report on 5-year multimodal imaging of ocular findings in a patient with thiamine-responsive megaloblastic anemia. METHODS:Observational case report. RESULTS:A 20-year-old-man with a history of thiamine-responsive megaloblastic anemia demonstrated a symmetric bull's eye maculopathy. Spectral domain optical coherence tomography revealed disruption of the parafoveal ellipsoid zone, fundus autofluorescence demonstrated foveal hypoautofluorescence, and full-field electroretinogram testing revealed a decreased photopic and scotopic response consistent with cone-rod dystrophy. His best-corrected visual acuity remained stable over 5 years at 20/50 in the right eye and 20/40 in the left eye, and visual field testing remained stable over time. CONCLUSION/CONCLUSIONS:Ocular manifestations in thiamine-responsive megaloblastic anemia are uncommon and variable. In this case, multimodal imaging and electroretinogram findings are consistent with cone-rod degeneration. The patient is taking daily thiamine supplementation, and visual acuity, funduscopic examination, spectral domain optical coherence tomography, and autofluorescence remained stable over a 5-year period.

PURPOSE/OBJECTIVE:To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). DESIGN/METHODS:Retrospective, observational, multicenter case series review. PARTICIPANTS/METHODS:Consecutive patients diagnosed with idiopathic AEPVM. METHODS:Review of clinical charts, multimodal imaging, electrophysiologic findings, and genetic findings in previously unpublished patients and review of the literature. MAIN OUTCOME MEASURES/METHODS:Clinical features of idiopathic AEPVM and differential diagnosis. RESULTS:Eighteen patients (age range, 21-74 years) with typical features of AEPVM, including initial localized, serous detachments followed by the development of characteristic yellow-white deposits in the vitelliform space. Over time, this hyperautofluorescent material gravitated within the larger lesions, resulting in typical curvilinear deposits characteristic of later stages. Symptoms and clinical findings lasted from weeks to several years. Some patients showed previously undescribed features such as fluorescein-negative intraretinal cystic changes, choroidal neovascularization, serous retinal elevations mimicking retinal folds, increased choroidal thickness, lack of rapid visual recovery, and recurrence years after complete resolution of initial manifestations. CONCLUSIONS:Acute exudative polymorphous vitelliform maculopathy can present with a more variable natural course than previously described. Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AEPVM, necessitating medical and hereditary evaluation to exclude these clinical possibilities. This series of patients with AEPVM expands the clinical spectrum of the disorder, including demographics, clinical manifestations, imaging features, natural course, and visual prognosis.

PURPOSE: To describe a case of unilateral Vogt-Koyanagi-Harada (VKH) disease and associated multimodal imaging. METHODS: Retrospective case report. RESULTS: A 50-year-old Hispanic male presented with three days of painless decreased vision in his left eye, headache, and decreased hearing. His visual acuity was 20/20 in the right eye and counting fingers in the left eye. Examination of his right eye was unremarkable. Funduscopic examination of his left eye revealed multiple serous retinal detachments. Fluorescein angiography demonstrated late multifocal pinpoint hyperfluorescence in his left eye and a diagnosis of VKH disease was made. He was treated with oral prednisone. Serial re-examination demonstrated resolution of the serous retinal detachments and a taper of his oral prednisone was initiated with improvement of his visual acuity to 20/25. CONCLUSIONS: Our patient had imaging and a clinical course that was consistent with VKH disease. This unilateral presentation may represent a clinical variant of VKH disease.

Purpose: There is currently much debate about the utility of routine ophthalmology consults to rule out intraocular involvement in fungemic patients, especially in the age of modern antifungals with improved ocular penetration. This retrospective observational clinical study aims to evaluate the incidence of intraocular involvement in patients with fungemia and identify predisposing risk factors in our population at an urban tertiary care hospital. Methods: A retrospective review was performed using clinical records for all inpatient ophthalmology consults for 'fungemia', 'candidemia', and 'rule out fungal endophthalmitis' between the dates of January 1, 2010 and December 31, 2015. Results: Of 94 patients (51.6 years, 75.5% male) with fungemia, 9/94 (9.6%) had chorioretinal involvement with one patient (1.1%) developing vitreous opacities. Another five (5.3%) demonstrated non-specific retinal lesions of which an infectious etiology could not be ruled out but were deemed inactive due to failure to progress over multiple examinations. Of those diagnosed with intraocular involvement, no patients communicated visual disturbances as they were either asymptomatic or intubated. 7/9 (78%) had a history of intra-abdominal surgery within the past year, 6/9 (67%) were receiving total parenteral nutrition (TPN), and 6/9 (67%) had concomitant bacteremia. All fungal isolates were subspecies of Candida with C. albicans being the most common (found in 6/9 patients [67%]). Change in management due to intraocular findings occurred in 2/9 cases (22%) and consisted mainly of optimization of antimicrobial therapy. Conclusions: Ocular involvement in fungemia is uncommon, but if present may result in devastating visual loss. In this study, an incidence of 9.6% is consistent with prior reports. However, in our series, all patients with intraocular involvement were asymptomatic or unable to communicate suggesting that routine examination remains necessary to detect early changes and modify treatment as necessary. These results also suggest that risk factors for ocular involvement in fungemia include history of abdominal surgery, total parenteral nutrition and concomitant bacteremia

Purpose: To evaluate the long-term outcomes of patients with polypoidal choroidal vasculopathy (PCV) receiving regular intravitreal bevacizumab injections as treatment. Methods: A retrospective review of 21 eyes from 18 patients diagnosed with PCV was performed to assess longitudinal outcomes including best-corrected visual acuity (BCVA), central foveal thickness (CFT) and number of intravitreal injections. The mean BCVA and mean CFT at 1 month, 3 months, 6 months, 12 months, 18 months, and 24 months follow-up were compared to baseline using paired t-tests. Results: The patients had a mean age of 68.9+/-7.1 years, a mean follow-up time of 23.9+/-20.5 months, and received a mean number of 9.3+/-6.9 injections. The mean baseline BCVA was 1.19+/-0.84 in LogMAR units and the mean baseline CFT was 389.2+/-127.9 mum. At 1 month, 3 months, 6 months, 12 months, 18 months, and 24 months follow-up the mean BCVA was 1.15+/-0.9, 1.02+/-0.76, 1.11+/-0.76, 1.11+/-0.82, 1+/-0.88, 0.83+/-0.58, and 1+/-0.52 LogMAR units, respectively (P=0.09, P=0.06, P=0.13, P=0.22, P=0.13, P=0.34). The mean CFT at 1 month, 3 months, 6 months, 12 months, 18 months, and 24 months of follow-up were 376+/-94.7, 364.79+/-122.63, 380.1+/-156.95, 351.88+/-126.46, 357.17+/-88.22, and 350.25+/-62.32 mum, respectively (P=0.07, P=0.002, P=0.001, P=0.002, P=0.01, P=0.19). In addition, 9 eyes showed no regression of the polyps, 11 eyes showed partial regression of the polyps, and 1 eye showed total regression as ascertained by the presence of subretinal or intraretinal fluid on optical coherence tomography (OCT). Conclusions: At 1 month, 3 months, 6 months, 12 months, 18 months, and 24 months of follow-up the mean BCVA and mean CFT showed consistent improvement. The BCVA, while not significant, was improved at all follow-up visits relative to baseline. The CFT showed significant improvement at all follow-up visits except at 24 months compared to baseline. For both BCVA and CFT, at the 24-month follow-up the least significant improvement was seen. These results support the regular use of intravitreal bevacizumab injections in the treatment of PCV. However, they may indicate that the improved outcomes of injections are only observed within a year and deterioration may ensue in the long term