Phenotype #0000297846

Individual ID	00405297
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 20/25, no light perception, refraction right/left eye: -1.00DS, not available, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit / funnel-shaped retinal detachment, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage / not available, indocyanine green angiography: permeability increased, slight leakage / not available, electrooculography Arden ratios right/left eye: 1,2 / not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-16 16:35:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD