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Bietti's crystalline dystrophy: Wikis

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Bietti's crystalline dystrophy
Classification and external resources
OMIM 210370
DiseasesDB 33427

Bietti's crystalline dystrophy (BCD), also called Bietti crystalline corneoretinal dystrophy,[1] is a rare autosomal recessive[2] 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.

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.

Bietti's crystalline dystrophy has an autosomal recessive pattern of inheritance.

Genetics

It has been associated with mutations in the CYP4V2 gene.[2] The nematode C.elegans has a duplicated gene (cyp31A2 and cyp31A3) that are orthologous of the human gene. This genes code for cytochrome P450s involved in fatty acid synthesis.[4]

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 210370
  2. ^ 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:10.1086/383228. PMID 15042513.  
  3. ^ 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.  
  4. ^ Benenati G, Penkov S, Müller-Reichert T, Entchev EV, Kurzchalia TV (2009 May-Jun). "Two cytochrome P450s in Caenorhabditis elegans are essential for the organization of eggshell, correct execution of meiosis and the polarization of embryo.". Mech Dev 126 (5-6): 382-93. doi:10.1016/j.mod.2009.02.001. PMID 19368796. http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=19368796.  

External links

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