Global Variome shared LOVD

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Phenotype #0000300096 Individual ID 00407966 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/60, 20/300, refraction right/left eye: +2.37 / +2.87, maculae: bilateral pseudocoloboma, electroretinography: nondetectable, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target); +T denotes small temporal island of vision separated from the central residual island) right/left eye: 9+T / 2+T, foveal thickness (um) right/left eye: 125 / 91 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination 13y (13 years) Age/Diagnosis 1y 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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