Phenotype #0000055908

Individual ID	00076133
Associated disease	CORD
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	unknown
Phenotype details	cone-rod dystrophy (HP:0000510); Visual acuity difficulties since early childhood followed by peripheral field loss in the second decade. Night blindness occurred in the third decade. Funduscopy revealed pale optic disks with severely attenuated retinal vessels. Heavy bone spicule pigmentation throughout the entire retina with extensive macular involvement. On ERG, no detectable signals were found.
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