Global Variome shared LOVD

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Phenotype #0000263693 Individual ID 00368355 Associated disease - Phenotype details At the age of 46, the visual acuity was 0.2/0.01 (OD/OS). The fundus showed: attenuated retinal arteries;pigment bone spicule-like;no foveal reflex. ERG response of the rods was: not available and of the cones was not available. Diagnosis/Initial retinitis pigmentosa Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 43y Phenotype/Onset poor vision Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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