Global Variome shared LOVD

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Phenotype #0000255398 Individual ID 00359993 Associated disease - Phenotype details Fundus: trace pallor of optic disc along with areolar or patchy type chorioretinal atrophy predominantly involving the macula. OCT: atrophy of the outer retina-RPE-choriocapillaries complex in both eyes with a relative preservation of the fovea. Diagnosis/Initial central areolar chorioretinal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 50y Phenotype/Onset Gradually decreasing central vision Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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