Phenotype #0000307657

Individual ID 00415885
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 0.08, 0.03; refraction right, left eye: -5.00-1.0x0deg, -6.00; nystagmus: yes; color vision deficiency: yes; night blindness: yes; fundus: distinct foveal retinal pigment epithelium atrophy; progression: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram
Age/Examination 36y (36 years)
Age/Diagnosis -
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 2022-08-17 13:43:52 +02:00 (CEST)
Date last edited N/A

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