Global Variome shared LOVD

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Phenotype #0000055801 Individual ID 00076026 Associated disease STGD1 Phenotype details Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 24: OD 20/50, dark choroid; y28: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 22y Phenotype/Onset visual loss 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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