Phenotype #0000297837

Individual ID 00405288
Associated disease -
Phenotype details best corrected visual acuity right/left eye: HM, 20/400, refraction right/left eye: not available, not available, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, indocyanine green angiography: permeability increased, hyperfluorescent spots, electrooculography Arden ratios right/left eye: not available
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite autosomal recessive bestrophinopathy
Age/Examination 31y (31 years)
Age/Diagnosis -
Age/Onset <5y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-16 16:35:27 +01:00 (CET)
Date last edited N/A

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