Phenotype #0000299180

Individual ID	00406729
Associated disease	-
Phenotype details	early onset cone-rod dystrophy with loss of central vision reported before 7y, peripheral field loss by the fourth decade; marked photophobia, particularly when dark-adapted; fundoscopy: bull�s eye maculopathy early in the disease with later involvement of the peripheral retina; electroretinography: no detectable cone responses early in disease, with progressive abnormality of rod responses appearing later
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	cone-rod dystrophy
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-04 14:34:26 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD