Global Variome shared LOVD

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

Phenotype #0000055579 Individual ID 00075804 Associated disease CORD Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 15y Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, nonrecordable ERG, OD 20/400, OS 20/200, Granular aspect of retinal pigment epithelium in macula. Slightly pale optic disc. Severely disturbed color vision. Central scotoma of 10–15,° no peripheral involvement. Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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