Global Variome shared LOVD

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

Phenotype #0000300086 Individual ID 00407956 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/400, 20/400, refraction right/left eye: +1.87 / +2, maculae: maculopathy, electroretinography: not performed, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target) right/left eye: 9 / 5, foveal thickness (um) right/left eye: 129 / 157 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination 9y (9 years) Age/Diagnosis 6y 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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