Phenotype #0000297840

Individual ID 00405291
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 20/40, 20/32, refraction right/left eye: +4.00DS, +3.25DS, 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, peripheral vascular leakage, indocyanine green angiography: vessel dilatation, hyperfluorescent spots, electrooculography Arden ratios right/left eye: 1,2 / 1,2
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite autosomal recessive bestrophinopathy
Age/Examination 21y (21 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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