Global Variome shared LOVD

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Phenotype #0000260219 Individual ID 00364881 Associated disease - Phenotype details At the age of 14, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was not available. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea) Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected 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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