Global Variome shared LOVD

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

Phenotype #0000256013 Individual ID 00360608 Associated disease - Phenotype details visual acuity: OD = 0.2, OS = 0.3. Visual field: OD = paracentral scotoma 10°, sensitivity loss for I/1, and I/2, OS = central scotoma 40° extending temporally. Colour vision: marked protan and deutan defects in both eyes. Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset Mild visual acuity loss 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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