Global Variome shared LOVD

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Phenotype #0000263640 Individual ID 00368302 Associated disease - Phenotype details At the age of 12 there was: Macular atrophy with choriocapillary atrophy, few yellow flecks in macula Central hypo-AF, hyper-AF Flecks, surrounding atrophy, hyper and hypo-AF flecks all over the fundus. SD-OCT showed: IS/OS loss . ERG showed: Cone-rod dysfunction. BCVA was: 20/80 in both eyes. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset unknown 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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