Global Variome shared LOVD

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Phenotype #0000259839 Individual ID 00364501 Associated disease - Phenotype details Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 35 the visual acuity was 0.1 OD an d 0.1OS. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 15y 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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