Bietti's crystalline dystrophy
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| Bietti's crystalline dystrophy Classification and external resources |
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| OMIM | 210370 |
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| DiseasesDB | 33427 |
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.
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[edit] 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.
[edit] Genetics
It has been associated with CYP4V2.[2]
[edit] 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:. PMID 15042513.
[edit] External links
- Bietti's Crystalline Dystrophy Resource Guide from the National Eye Institute (NEI).
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