Phenotype #0000297147

Individual ID	00404557
Associated disease	-
Phenotype details	measurements right / left eye: visual acuity (refractive error): 0.8+ (+1.00/ - 0.50, 150deg) / 0.6+ (+1.50/ - 1.00, 10deg), electroretinography, photopic: normal / normal, electroretinography, scotopic: normal / normal, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Multifocal lesions with yellowish subretinal depositions at edge of lesions, subretinal scarring
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy (ARB)
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	17y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-03 14:07:53 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD