Phenotype #0000301679

Individual ID 00409562
Associated disease BCD
Phenotype details best corrected visual acuity right/left eye: 0.7/0.2; 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 58y (58 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-10 12:55:52 +02:00 (CEST)
Date last edited N/A

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