Phenotype #0000298245

Individual ID	00405748
Associated disease	-
Phenotype details	corrected distance visual acuity: 0.16 / 0.25, optical coherence tomography: multiple yellowish, vitelliform deposits in the macula and along the vessel arcades exhibiting a pseudohypopyon appearance serous subretinal fluid, electroretinography: reduced photopic and scotopic responses left eye, normal right eye, whereas the multifocal erg was reduced centrally and paracentrally, electrooculography: reduced Arden ratio
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	autosomal recessive bestrophinopathy (ARB)
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-21 18:30:03 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD