Emilie Mercé

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Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary cone-rod dystrophy (LCA type I) or a progressive yet severe rod-cone dystrophy (LCA type II). Twelve LCA genes have been identified, three of which account for Type I and nine for LCA type II. All proteins encoded by these genes(More)
We treated 26 eyes of 25 young patients having a mean age of 30 years with intravitreal vascular endothelial growth factor (VEGF) inhibitor for choroidal new vessel (CNV) formation overlying choroidal osteoma over a mean follow-up of 26 months. Mean number of injections was 2.4 at 6 months, 3.2 at 12 months, and 5.5 at 24 months. CNV was subfoveal in 14(More)
BACKGROUND Choroidal osteoma is a rare, ossifying tumor, which, while benign, may be complicated by choroidal neovascularization. METHODS An 11-year-old boy presented with blurred vision in the right eye for few days. Fundus examination showed bulky lesion in the posterior pole containing a sub-retinal hemorrhage. The geographic borders and color of the(More)
BACKGROUND Alport syndrome is a progressive inherited glomerulonephritis leading to renal failure, hearing loss and ocular changes. PURPOSE To report the seventh case of giant macular hole in a patient with Alport syndrome, review the literature, and propose a pathophysiological mechanism. METHODS The case of a man with a giant macular hole of the right(More)
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