Global Variome shared LOVD

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

Phenotype #0000256014 Individual ID 00360609 Associated disease - Phenotype details visual acuity: OD = 1.0, OS = 1.2. Visual field: supmild constriction (I/3,I/2,I/1) in both eyes, and in OS a paracentral scotoma 5° was observed. Colour vision: normal in both eyes. Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 22y Phenotype/Onset Photophobia in bright light and mild nyctalopia Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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