Global Variome shared LOVD

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Phenotype #0000056959 Individual ID 00077184 Associated disease STGD1 Phenotype details Stargardt disease, late onset; y60: Visual actuity: OD 20/40, OS 20/30, 1999: Flavimaculatus flecks with foveal sparing 2010: Flavimaculatus flecks with central chorioretinal atrophy and small area of normal FAF in fovea, dark choroid; y61: Visual acuity OD: 20/40 OS: 20/30 RPE atrophy with small foveal peninsula, yellow-white fundus flecks reaching up to the midperiphery. Foveal sparing in both eyes. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <58y Phenotype/Onset The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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