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Bietti's crystalline dystrophy

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Bietti's crystalline dystrophy

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 after Dr. G. B. Bietti.[3]

BCD is a rare disease and appears to be more common in people with Asian ancestry.[4][5][6]

Presentation

Symptoms of BCD include:

  • Crystals in the cornea (the clear covering of the eye)
  • Yellow, shiny deposits on the retina
  • 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

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

BCD is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

BCD is 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. These genes code for cytochrome P450s involved in fatty acid synthesis.[7]

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 210370
  2. ^ a b c 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.  
  3. ^ Bietti G (1937). "Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen".  
  4. ^ Furusato, E; Cameron, JD; Chan, C (2010). "Evolution of Cellular Inclusions in Bietti’s Crystalline Dystrophy". Ophthalmol Eye Dis. 2: 9–15. 
  5. ^ Sahu, DK; Rawoof, AB (2002). "Bietti's crystalline dystrophy". Indian J Ophthalmol (Medknow) 50 (4): 330–332.  
  6. ^ Welch, RB (1977). "Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy". Trans Am Ophthalmol Soc 75: 164–79.  
  7. ^ Benenati G, Penkov S, Müller-Reichert T, Entchev EV, Kurzchalia TV (May–Jun 2009). "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.  

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