Phenotype #0000305298

Individual ID 00413316
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 6/12, 6/9; fundus: bilateral mild macular retinal pigment epithelium changes; fundus autofluorescence: bilateral localized increased macular autofluorescence; electroretinogram: normal; pattern electroretinogram: markedly reduced; color vision: not available
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 42y (42 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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