Global Variome shared LOVD

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Phenotype #0000262501 Individual ID 00367163 Associated disease - Phenotype details At the age of 26, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance. Diagnosis/Initial Stargardt disease Inheritance Unknown Diagnosis/Definite STGD1 Age/Examination - Age/Diagnosis - Age/Onset 7y Phenotype/Onset first symptoms 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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