Phenotype #0000056953

Individual ID	00077178
Associated disease	STGD1
Phenotype details	Stargardt disease, late onset; y65: Visual actuity: OD 20/25, OS 20/20, 1990: Flavimaculatus flecks with foveal sparing, 2010: Extensive parafoveal chorioretinal atrophy with foveal sparing, dark choroid; y66: Visual acuity OD:20/30 OS:20/20 OD: macular RPE atrophy with small foveal residue, small macular intraretinal pigmentations, hypopigmented RPE in posterior pole OD: pericentral absolute scotoma . OS: RPE atrophy lesions in posterior pole, hypopigmented RPE in posterior pole OD: three paracentral spots of absolute visual field loss. Foveal sparing in right eye.
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<45y
Phenotype/Onset	The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist
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