Phenotype #0000304958

Individual ID 00412972
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/28, 20/50; spherical equivalent refraction: -3.00, -2.00; lens status: clear; electroretinogram, scotopic: moderately reduced, photopic: moderately reduced; Goldmann perimetry: intact peripheral visual field
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone-rod dystrophy
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset decrease in visual acuity
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-07 11:38:31 +02:00 (CEST)
Date last edited N/A

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