Global Variome shared LOVD

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

Phenotype #0000304968 Individual ID 00412982 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/20, 20/20; spherical equivalent refraction: -1.25, -2.25; lens status: clear; electroretinogram, scotopic: not performed, photopic: not performed; Goldmann perimetry: constricted visual field <10deg Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset 25y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-07 11:38:31 +02:00 (CEST) Date last edited N/A

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