Global Variome shared LOVD

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Phenotype #0000263477 Individual ID 00368139 Associated disease - Phenotype details Visual acuity was 20/200 in the right eye and 20/40 in the left eye after correcting for moderate refractive error (?6.5 ? 0.25 × 50 right eye; ?6.25 ? 0.25 × 190 left eye). Intro-ocular pressures (IOP) were 12 mmHg and optic cup-to-disk ratios 0.2 in both eyes. Slit-lamp examination of the anterior segment was unremarkable. Dilated fundus examination found granular mottling of the retinal pigment epithelium (RPE) and welldelineated lesions of chorioretinal atrophy in both eyes. Fundus autofluorescence (FAF) imaging confirmed the presence of bright granular deposition corresponding to the RPE mottling observed on fundoscopy. Peripapillary sparing of disease changes around the optic nerve, a pathognomonic feature of ABCA4, was noted in both eyes. Diagnosis/Initial Stargardt disease Inheritance Isolated (sporadic) Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset central vision loss Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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