Global Variome shared LOVD

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Phenotype #0000301511 Individual ID 00409394 Associated disease BCD Phenotype details best corrected visual acuity right, left eye: 0.4 / 0.5; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-09 10:58:59 +02:00 (CEST) Date last edited N/A

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