Phenotype #0000315330

Individual ID 00424123
Associated disease -
Phenotype details age, first / last exam: 15 / 19; visual acuity right eye first; last visit, left eye first; last visit20/20, 20/40; 20/20, 20/30; kinetic visual fields (V4e): 16y: central scotoma through I3e; V4e full; full field electroretinography: rods: 50-60% normal, cones: < 40% normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone-rod dystrophy
Age/Examination -
Age/Diagnosis -
Age/Onset 13y
Phenotype/Onset impaired vision
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-11-17 13:39:56 +01:00 (CET)
Date last edited N/A

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