Global Variome shared LOVD

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

Phenotype #0000300097 Individual ID 00407967 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/100, 20/300, refraction right/left eye: +4.87 / +3.75, maculae: maculopathy, electroretinography: not available, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target) right/left eye: 10 / 10, foveal thickness (um) right/left eye: 112 / 85 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination 13y (13 years) Age/Diagnosis 3y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-11 15:08:36 +02:00 (CEST) Date last edited N/A

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