Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000298459 Individual ID 00405961 Associated disease - Phenotype details best corrected visual acuity right, left eye: 7/10, 6/10, refraction right/left eye: +4.5 / +4.25-0.75 x 60 / , electroretinography: normal, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes, inner nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 5y (5 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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