SUBFOVEAL NODULE IN COATS' DISEASE: Toward an Updated Classification Predicting Visual Prognosis.

PURPOSE: To determine the prevalence, clinical characteristics and nature of subfoveal nodules in Coats' disease and the associated impact on the long-term visual outcome. METHODS: Consecutive cases of Coats' disease with foveal exudation were retrospectively reviewed. The presence of a subfoveal nodule or macular fibrosis was recorded. Clinical characteristics, retinal imaging, and outcome were analyzed by comparative analysis. The histopathological description of an enucleated eye with subfoveal nodule was performed. RESULTS: Among 40 patients presenting unilateral Stage 2B or 3A1 Coats' disease, a subfoveal nodule was detected in 21 patients (52.5%). The median follow-up was 4.7 years. Nineteen patients (47.5%) did not present a subfoveal nodule. Three patients (15.8%) without subfoveal nodule and 21 patients (100%) with subfoveal nodule progressed to a macular fibrotic scar (P < 0.0001), and the mean time of macular fibrosis onset was 11.0 ± 2.6 months. Final visual acuity was significantly worse in patients who presented a subfoveal nodule at diagnosis (P = 0.01). Of 18 cases with subfoveal nodule who underwent fluorescein angiography, retinal-retinal anastomosis and neovascularization were detected in 13 (72.2%) and 2 eyes (11.1%), respectively. Histopathological analysis of a subfoveal nodule revealed an aggregate of proteinaceous material including fibrin, spindle cells, macrophages, and pigmented cells. CONCLUSION: The presence of a subfoveal nodule at presentation is a predictive factor for macular fibrosis development and worse visual outcome in patients with Coats' disease. These observations suggest an updated classification introducing two subcategories within Stage 2B: without subfoveal nodule (Stage 2B1) and with subfoveal nodule (Stage 2B2).

EXTRAMACULAR FIBROSIS IN COATS' DISEASE.

PURPOSE: To determine the rate, risk factors, and outcome of extramacular fibrosis in Coats' disease. METHODS: Consecutive cases from a single center were retrospectively reviewed. Clinical characteristics and treatments were analyzed by comparative, multivariate, and survival approaches. RESULTS: Among 69 patients with Coats' disease, 28 (40.6%) showed evidence of extramacular fibrosis (mean follow-up: 58.2 months). Mean time of fibrosis onset was 17.4 months. Extent of retinal exudation and rate of exudative retinal detachment at baseline were significantly higher in eyes that developed extramacular fibrosis compared with those that did not (P < 0.001). Similarly, these parameters showed significant differences using multivariate (P < 0.05) and survival analysis (P < 0.001). Extension of telangiectasia, number of cryotherapy, or laser sessions, and treatment by anti-vascular endothelial growth factor were not associated with extramacular fibrosis. Final visual acuity was worse in patients with extramacular fibrosis (P < 0.001). The rates of tractional retinal detachment and macular fibrosis were higher in patients with extramacular fibrosis (39%.0 vs. 0% and 60.7% vs. 19.5%, respectively, P < 0.001). CONCLUSION: Extramacular fibrosis led to a worse visual prognosis and was associated with the extension of retinal exudation and the presence of exudative retinal detachment at diagnosis. Treatment should target a quick resolution of exudation to limit its development.

Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.

OBJECTIVE: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient. METHODS: Affected family members were ascertained for phenotypic and genotypic characterization. Ophthalmic evaluations included fundus photography, autofluorescence imaging, optical coherence tomography, and International Society for Clinical Electrophysiology of Vision standard full-field electroretinography. When possible family members had genetic testing. The proband presented with choroidal neovascularization and had intravitreal injections as needed according to visual acuity and optical coherence tomography. RESULTS: Proband had a multifocal type pattern dystrophy, and his choroidal neovascularization regressed after four intravitreal injections. The vision improved from 0.8 to 1.0, and optical coherence tomography showed complete anatomical restoration. A butterfly-shaped pattern was observed in her cousin, whereas a fundus pulverulentus pattern was seen in a second cousin. Aunt had a multifocal atrophic appearance, simulating geographic atrophy in age-related macular degeneration. The Y141C mutation was identified in the peripherin/RDS gene and segregated with disease in the family. CONCLUSION: This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization.

In vivo study comparing an X-shaped polymethylmethacrylate and a cylindrical collagen implant for deep sclerectomy.

BACKGROUND: Study in vivo characteristics of a polymethylmethacrylate (PMMA) implant compared to the standard cylindrical collagen implant for deep sclerectomy (DS). DESIGN: Six-month comparative study. SAMPLES: Twenty eyes of ten rabbits. METHODS: Eyes were randomized to have DS with PMMA implant in one eye and collagen implant in the opposite eye. The growth of the new subconjunctival drainage vessels was assessed by combined fluorescein and indocyanin green anterior segment angiography; intrascleral and subconjunctival blebs were imaged by ultrasound biomicroscopy (UBM). At six months, outflow facility (C) was measured by anterior chamber perfusion and portions of one side of the DS were compared to portions on the 180° opposite side and native sclera on histology. RESULTS: The mean IOP preoperatively and at one, four, twelve, and twenty-four weeks was comparable in both groups (P > 0.1). UBM showed a statistically insignificant quicker regression of the subconjunctival bleb as well as a durable intrascleral lake in the PMMA group (P > 0.05). New drainage vessels were initially observed one month after surgery; they were more numerous in the PMMA group on angiographic and histological findings at 6 months (P < 0.05). The mean C increased significantly after surgery compared to preoperative values (P < 0.05) and no difference was observed between the implants (0.24 ± 0.06 µl/min/mmHg [PMMA] and 0.23 ± 0.07 µl/min/mmHg [collagen implant]) (P = 0.39). CONCLUSIONS: Deep sclerectomy performed with PMMA or collagen implants showed similar IOP lowering effects, outflow facility increase, and degree of inflammatory reaction.

Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa.

PURPOSE: We reported an unusual appearance of fundus autofluorescence (FAF) associated with NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP). METHODS: Patients were enrolled among three generations in a Swiss family. Molecular diagnosis identified a c.166G > A (p.G56R) mutation. Ophthalmic examination included fundus photography, FAF near-infrared autofluorescence (NIA), optical coherence tomography (OCT), and visual fields (VF). RESULTS: Fundus examination revealed a wide range of features from unremarkable to attenuated arterial caliber, clumped and spicular pigment deposits in the mid-periphery and optic nerve pallor. FAF showed a double concentric hyperautofluorescent ring: an inner perimacular ring that tended to be smaller in older patients, and an outer ring located along the vascular arcades, which appeared to extend over time toward the periphery and eventually became hypoautofluorescent. The inner and outer hyperautofluorescent rings were seen both on NIA and FAF at a similar localization. There was also a spatial correspondence between the loss of photoreceptor inner segment and outer segment junction on OCT and the area delimited by both double FAF and NIA rings. VF showed either mid-peripheral annular scotoma or constricted visual field loss in advanced cases, correlating with dystrophic nonfunctional retinal regions demarcated by the hyperautofluorescent annuli. A double ring of hyperautofluorescence was observed in all but one patient of two additional families, but not in patients harboring mutations in other ADRP genes, including PRPF3, RHO, RP1, PRPH2, PROM1, and CTRP5. CONCLUSIONS: The presence of a double concentric hyperautofluorescent ring of FAF may represent a highly penetrant early phenotypic marker of NR2E3-p.G56R-linked ADRP.