Phenotype #0000300085

Individual ID 00407955
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/80, 20/50, refraction right/left eye: +1.5 / +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: 8 / 8, foveal thickness (um) right/left eye: 84 / 97
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite early onset retinal degeneration
Age/Examination 8y (8 years)
Age/Diagnosis 4y
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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