Phenotype #0000054869

Individual ID	00075094
Associated disease	CORD
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	<15y
Phenotype/Onset	loss of central vision
Phenotype details	cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows (para)central scotomas. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Dark pigmentations at the macula, surrounded by hypopigmented halo.
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