Global Variome shared LOVD

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Phenotype #0000057706 Individual ID 00077931 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details ABCA4-related retinal disease; y40 visual acuity was 0.48 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 6.41mm^2 in the right eye. y47, visual acuity was 1 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 6.41mm^2 in the right eye. Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 28y Phenotype/Onset visual loss Protein - Tumor/MSI - Diagnosis/Criteria - 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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