Phenotype #0000300079

Individual ID 00407949
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/125, 20/125, refraction right/left eye: +1.5 / +1.5, maculae: well-delimited chorioretinal atrophy, electroretinography: not performed, 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: 100 / 154
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite early onset retinal degeneration
Age/Examination 4y (4 years)
Age/Diagnosis 3y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-11 15:08:36 +02:00 (CEST)
Date last edited N/A

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