Phenotype #0000057993

Individual ID 00078218
Associated disease STGD1
Phenotype details Stargardt disease; The best corrected visual acuity in proband 1 (aged 39 years) was 0.1 bilaterally. Fundus examination showed typical multiple yellow-white lesions and macular atrophy. Alterations of retinal pigment epithelium, retinal thinning and disruption of the photoreceptor inner segment ellipsoid band were detected with an SD-OCT.
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset unknown
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A

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