Global Variome shared LOVD

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Phenotype #0000056119 Individual ID 00076344 Associated disease STGD1 Phenotype details Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss; y30: visual acuity 0.1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <20y Phenotype/Onset unknown 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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