Phenotype #0000301678

Individual ID 00409561
Associated disease BCD
Phenotype details best corrected visual acuity right/left eye: 0.9/0.9; slit lamp: no; in vivo corneal confocal microscopy: no; funduscopy: bilateral tapetinal degeneration with few crystalline deposits; fluorescein angiography: bilateral geographical areas of retinal pigmentary epithelium and choriocapilaris atrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination 43y (43 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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