Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000116680 Individual ID 00143902 Associated disease - Phenotype details Age 56; Age diagnosis 55; symptom: Night blindness in her mid-twenties; visual acuity: R 0,2 L 0,5; lens status: IOL (NS); Fundoscopy results: Normal optic disc, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules. Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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