Global Variome shared LOVD

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Phenotype #0000298297 Individual ID 00405800 Associated disease - Phenotype details blurred vision, age at first visit (y): 46, right eye: phenotype V: two to four well-circumscribed lesions consistent with multifocal Best vitelliform macular dystrophy , best corrected visual acuity first/last visit: 0.6/ - , refraction: +4.00/−1.25; , left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.2/ - , refraction: +4.25/− Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 46y (46 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 2022-03-22 14:27:19 +01:00 (CET) Date last edited N/A

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