Global Variome shared LOVD

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Phenotype #0000300648 Individual ID 00408531 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.04/0.1; central scotomas, normal peripheral visual fields and electroretinograms; funduscopy: exudative disciform lesions in both maculae, with confluent yellow deposits, subretinal hemorrhages, pigment clumps, and areolar atrophy of the choriocapillaris; peripheral fundi intact, no difficulty with daily activities and night vision Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Sorsby fundus dystrophy Age/Examination 78y (78 years) Age/Diagnosis - Age/Onset 73y Phenotype/Onset 73y: visual loss in the right eye, 77y: left eye Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-22 14:00:33 +02:00 (CEST) Date last edited N/A

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