Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000305062 Individual ID 00413081 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/50 OS 20/50+1; color (Ishihara plates): both eyes: test plate only; Goldmann visual field: mild nasal constriction; fundus: mild pallor right>left eye, retinal pigment epithelium atrophy in macula, arteriolar attenuation, few areas of circular retinal pigment epithelium atrophy in periphery ; electroretinogram: decreased cone-and rod responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone-rod dystrophy Age/Examination 48y (48 years) Age/Diagnosis 44y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-11 12:14:39 +02:00 (CEST) Date last edited N/A

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