Global Variome shared LOVD

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Phenotype #0000300090 Individual ID 00407960 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/60, 20/125, refraction right/left eye: +2.25 / +3.25, maculae: bilateral pseudocoloboma, electroretinography: severely reduced amplitudes, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target) right/left eye: 2 / 2, foveal thickness (um) right/left eye: 76 / 34 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination 11y (11 years) Age/Diagnosis 0m 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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