Phenotype #0000297621

Individual ID 00405064
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.1/0.4, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, cystoid macular edema, neurosensory retinal detachment
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite autosomal recessive bestrophinopathy (ARB)
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-15 11:38:14 +01:00 (CET)
Date last edited N/A

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