Global Variome shared LOVD

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Phenotype #0000116786 Individual ID 00144008 Associated disease - Phenotype details At age 31: visual acuity: OD 20/32, OS 20/40; Normal optic disc and blood vessels; some RPE changes in periphery, CME; Patchy loss of AF outside the vascular arcade with macular changes in relation with CME; perifoveal ring of hyper AF Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset adaptation problem from light to dark Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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