Global Variome shared LOVD

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Phenotype #0000260218 Individual ID 00364880 Associated disease - Phenotype details At the age of 14, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with normal full-field ERGs. (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 12y 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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