Global Variome shared LOVD

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Phenotype #0000301504 Individual ID 00409387 Associated disease BCD Phenotype details best corrected visual acuity right, left eye: 20/400, finger counting; fundus findings: crystalline deposits, retinal pigment epithelium atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 69y (69 years) Age/Diagnosis - Age/Onset 65y Phenotype/Onset decrease of visual acuity, nyctalopia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-08 15:44:56 +02:00 (CEST) Date last edited N/A

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