Global Variome shared LOVD

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Phenotype #0000298306 Individual ID 00405809 Associated disease - Phenotype details cystoid macular edema and subretinal fluid accumulation; best corrected visual acuity at first visit right, left eye: 20/25, 20/66, 7 months later unchanged; intraocular pressure: normal; anterior chamber depth and anterior chamber angles: normal; no microcornea, cataract, or staphyloma; fundus: yellowish macular lesions; full-field electroretinography test results indicated reduced amplification (subnormal) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset - Phenotype/Onset reduced vision in both eyes Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-22 17:40:37 +01:00 (CET) Date last edited N/A

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