Phenotype #0000307670

Individual ID 00415898
Associated disease -
Phenotype details symptoms: decreased vision, nyctalopia; best corrected visual acuity: 20/50; refractive error: -1.75; fundus findings: retinal pigment epithelium atrophy; visual field findings: central scotoma; color vision abnormalities: protan-deutan; documented progression of condition: decreased visual
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset 0m
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 13:46:03 +02:00 (CEST)
Date last edited N/A

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