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
Created by	Stéphanie Cornelis
Date created	2016-02-22 12:22:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD