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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 crystalline corneoretinal dystrophy,1 is a rare autosomal recessive2 eye disease named for Dr. G. B. Bietti.3
BCD is a rare disease and appears to be more common in people with Asian ancestry.citation needed
Contents |
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.
Genetics
It has been associated with mutations in the CYP4V2 gene.2
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 210370
- ^ a b Li, A; Jiao, X; Munier, Fl; Schorderet, Df; Yao, W; Iwata, F; Hayakawa, M; Kanai, A; Shy, Chen, M; Alan, Lewis, R; Heckenlively, J; Weleber, Rg; Traboulsi, Ei; Zhang, Q; Xiao, X; Kaiser-Kupfer, M; Sergeev, Yv; Hejtmancik, Jf (May 2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". American journal of human genetics 74 (5): 817–26. doi:. PMID 15042513.
- ^ Bietti G (1937). "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.
External links
- Bietti's Crystalline Dystrophy Resource Guide from the National Eye Institute (NEI).
- Bietti's crystalline dystrophy at NIH's Office of Rare Diseases
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Wikipedia content modification information:
- This page was last modified on 23 August 2008, at 11:47.
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