Phenotype #0000304957

Individual ID 00412971
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/50, 20/200; spherical equivalent refraction: -1.25, -1.00; lens status: clear; electroretinogram, scotopic: severely reduced, photopic: severely reduced; Goldmann perimetry: central scotoma and visual field constriction (nasal>temporal)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone-rod dystrophy
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset 37y
Phenotype/Onset decrease in visual acuity / night blindness
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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