Global Variome shared LOVD

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Phenotype #0000326910 Individual ID 00436809 Associated disease RD Phenotype details fundus maculopathy; FF-ERG scotopic in normal range, photopic in normal range; fundus central speckled hyperautofluorescence (pattern-like); OCT bilateral central outer retinal disruption with intraretinal hyperreflective deposits, bilateral perifoveal outer retinal disruption, bilateral thickening retinal pigmented epithelium and ellipsoid zoneMacular dystrophy Diagnosis/Initial macular dystrophy, no cone dysfunction Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 57y (57 years) Age/Diagnosis 49y Age/Onset - Phenotype/Onset - Protein - Owner name Tamar Ben-Yosef Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Tamar Ben-Yosef Date created 2023-10-09 09:20:02 +02:00 (CEST) Date last edited 2024-02-16 13:49:58 +01:00 (CET)

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