Global Variome shared LOVD

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Phenotype #0000055799 Individual ID 00076024 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 46: OD 20/1,000, dark choroid Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 24y 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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