Phenotype #0000055878

Individual ID	00076103
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Stargardt disease/Cone-rod dystrophy; Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results.
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	unknown
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
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