Global Variome shared LOVD

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

Phenotype #0000304967 Individual ID 00412981 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/55, 20/46; spherical equivalent refraction: -4.00, -4.00; lens status: cataract extracted at 34y; electroretinogram, scotopic: nonrecordable, photopic: nonrecordable; Goldmann perimetry: constricted visual field to 5deg (right eye) and 3deg (left eye) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 46y (46 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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