Global Variome shared LOVD

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Phenotype #0000301680 Individual ID 00409563 Associated disease BCD Phenotype details best corrected visual acuity right/left eye: 0.7/0.8; slit lamp: bilateral corneal limbic deposits; in vivo corneal confocal microscopy: bilateral subepithelial and anterior stromal deposits; funduscopy: bilateral tapetinal degeneration with few crystalline deposits; fluorescein angiography: bilateral massive atrophy of the pigment epithelium Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 36y (36 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 2022-05-10 12:55:52 +02:00 (CEST) Date last edited N/A

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