Phenotype #0000300091

Individual ID 00407961
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/60, 20/40, refraction right/left eye: +2.5 / +1.5, maculae: maculopathy, electroretinography: severely reduced amplitudes, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target) right/left eye: 6 / 7, foveal thickness (um) right/left eye: 77 / 111
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite early onset retinal degeneration
Age/Examination 11y (11 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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