Global Variome shared LOVD

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

Phenotype #0000315319 Individual ID 00424112 Associated disease - Phenotype details age, first / last exam: 46 / 48; visual acuity right eye first; last visit, left eye first; last visit20/60, 20/60; 20/20, 20/60; kinetic visual fields (V4e): central and pericentral ring scotomas; full field electroretinography: rods: nondetectable, cones: 20-35% normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset nyctalopia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-17 13:39:56 +01:00 (CET) Date last edited N/A

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