Global Variome shared LOVD

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

Phenotype #0000116715 Individual ID 00143937 Associated disease - Phenotype details disease progressed so slowly that she did not notice VF constriction until age 24. At age 33: BCVA R 20/50 L 20/40; VF less than 15° for both eyes; no pigment deposit; OCT thickened inner/outer segment (IS/OS) layer with a preserved macular structure Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 8y Phenotype/Onset night blindness Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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