Global Variome shared LOVD

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Phenotype #0000055886 Individual ID 00076111 Associated disease - Phenotype details retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage. Diagnosis/Initial retinitis pigmentosa Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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