Global Variome shared LOVD

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Phenotype #0000057517 Individual ID 00077742 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details ABCA4-related retinal disease; y22: visual acuity OD 2.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades. Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset visual loss or the age at the latest examination for patients who were asymptomatic 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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