Global Variome shared LOVD

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Phenotype #0000056961 Individual ID 00077186 Associated disease STGD1 Phenotype details Stargardt disease, late onset; y61: Visual actuity: OD 20/20, OS count fingers, Flavimaculatus flecks with foveal sparing OD and parafoveal chorioretinal atrophy ODS, dark choroid; y60: Visual acuity OD: 20/30 20/30 RPE atrophy spots, confluent in OD, around the fovea; yellow-white irregular 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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