Global Variome shared LOVD

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Phenotype #0000255397 Individual ID 00359992 Associated disease - Phenotype details Fundus: mild waxy pallor of the optic disc along with extensive chorioretinal atrophy involving the posterior pole and midperiphery with sparing of the fovea in the right eye. Pigment spicules were markedly apparent in the midperiphery. OCT: atrophy of the outer retina-RPE-choriocapillaries complex in both eyes. Diagnosis/Initial end stage fundus flavimaculatus Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 40y Phenotype/Onset Gradually decreasing central vision in the right eye, accompanied with a progressive nyctalopia and visual field defect 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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