Global Variome shared LOVD

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Phenotype #0000298462 Individual ID 00405964 Associated disease - Phenotype details best corrected visual acuity right, left eye: 7/10, 5/10, refraction right/left eye: +3.50-3.00 x180 / +2.75-1.25 x180, electrooculography Arden ratio right/left eye: 121 / 117, electroretinography: normal, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, angle-closure glaucoma treatment: timolol Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-23 19:18:42 +01:00 (CET) Date last edited N/A

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