Global Variome shared LOVD

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

Phenotype #0000330514 Individual ID 00440602 Associated disease - Phenotype details initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; thinning retinal arterioles, bone spicule-type pigment deposits peripheral retina, extensive retinal atrophy central area macula; best-corrected visual acuity OD 20/200, best-corrected visual acuity OS 20/200; blood fat Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 18y-60y Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-04 21:20:21 +01:00 (CET) Date last edited N/A

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