Global Variome shared LOVD

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Phenotype #0000297143 Individual ID 00404553 Associated disease - Phenotype details measurements right / left eye: visual acuity (refractive error): 0.3+ (+1.00/ - 0.50, 166deg) / 0.5 (+1.00/ - 0.75, 3deg), electroretinography, photopic: normal; abnormally prolonged latency of cone responses / normal; abnormally prolonged latency of cone responses, electroretinography, scotopic: normal / normal, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Multifocal lesions with yellowish subretinal depositions at edge of lesions, mild subretinal scarring Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-03 14:07:53 +01:00 (CET) Date last edited N/A

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