Global Variome shared LOVD

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

Phenotype #0000308283 Individual ID 00416563 Associated disease - Phenotype details best corrected visual acuity right, left eye: 1, 1; refractive error: right, left eye:-0.50 DS , -1.00 DS/-0.50 DCx120; fundus appearance both eyes: normal; electroretinogram: reduced; visual field: normal Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 22y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 14:10:11 +02:00 (CEST) Date last edited N/A

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