Phenotype #0000305301

Individual ID 00413319
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 6/9, 6/12; fundus: bilateral macular retinal pigment epithelium changes with areas of atrophy; left>right eye; fundus autofluorescence: bilateral localized area of increased ; electroretinogram: reduced cone and rod responses ; pattern electroretinogram: left: absent; right: markedly reduced; color vision: absent
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 43y (43 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 2022-07-14 20:21:02 +02:00 (CEST)
Date last edited N/A

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