Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000263824 Individual ID 00368486 Associated disease - Phenotype details Fundus at central retina: Large confluent areas of CR atrophy, with preserved foveal area; Fundus rat peripheral retina: Plaques of CR atrophy; Autofluorescence: Hypo-AF due to plaques atrophy in macula and periphery of the retina; OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE. CRT = 128 um RE/141 um LE; Clinical diagnosis: Extensive CR atrophy Diagnosis/Initial CR atrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 52y Phenotype/Onset Loss of peripheral visual field 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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