Global Variome shared LOVD

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Phenotype #0000260256 Individual ID 00364918 Associated disease - Phenotype details At the age of 12, the visual acuity was 20/400 (OD) and 20/400 (OS). Ophthalmoscopy showed: Yellowish white flecks in para- and perifoveal area, central RPE alterations. Fluorescence angiography showed: No dark choroid. Electroretinoscophy showed: OD photopic: moderately reduced, OS pathologically reduced (lowered amplitude). The Stargardt type was: perifoveal type. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset First record of visual loss. Visual acuity was 20/400(OD) and 20/400(OS). 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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