Bietti's crystalline dystrophy
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Bietti’s crystalline dystrophy (BCD), also called Bietti’s crystalline retinopathy, is a rare autosomal recessive eye disease named for Dr. G. B. Bietti.[1]
BCD is a rare disease and appears to be more common in people with Asian ancestry.
Presentation
Presentation
The symptoms of BCD include: crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and visual field constriction.
References
References
- ↑ Bietti, G. Ueber familiaeres Vorkommen von ‘Retinitis punctata albescens’ (verbunden mit ‘Dystrophia marginalis cristallinea corneae’), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen. Klin. Mbl. Augenheilk. 99: 737-757, 1937.
- ↑ Li A, Jiao X, Munier FL; et al. (2004). “Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2”. Am. J. Hum. Genet. 74 (5): 817–26. doi:10.1086/383228. PMID 15042513.
External links
External links
- Bietti’s Crystalline Dystrophy Resource Guide from the National Eye Institute (NEI).
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