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Yang, C. Bietti Crystalline Dystrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4977 (accessed on 28 September 2026).
Yang C. Bietti Crystalline Dystrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4977. Accessed September 28, 2026.
Yang, Catherine. "Bietti Crystalline Dystrophy" Encyclopedia, https://encyclopedia.pub/entry/4977 (accessed September 28, 2026).
Yang, C. (2020, December 24). Bietti Crystalline Dystrophy. In Encyclopedia. https://encyclopedia.pub/entry/4977
Yang, Catherine. "Bietti Crystalline Dystrophy." Encyclopedia. Web. 24 December, 2020.
Bietti Crystalline Dystrophy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bietti-crystalline-dystrophy

Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.

genetic conditions

References

  1. 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, XiaoX, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinaldystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004May;74(5):817-26.
  2. Mamatha G, Umashankar V, Kasinathan N, Krishnan T, Sathyabaarathi R,Karthiyayini T, Amali J, Rao C, Madhavan J. Molecular screening of the CYP4V2gene in Bietti crystalline dystrophy that is associated with choroidalneovascularization. Mol Vis. 2011;17:1970-7.
  3. Mansour AM, Uwaydat SH, Chan CC. Long-term follow-up in Bietti crystallinedystrophy. Eur J Ophthalmol. 2007 Jul-Aug;17(4):680-2.
  4. Rossi S, Testa F, Li A, Iorio VD, Zhang J, Gesualdo C, Corte MD, Chan CC,Fielding Hejtmancik J, Simonelli F. An atypical form of Bietti crystallinedystrophy. Ophthalmic Genet. 2011 Jun;32(2):118-21. doi:10.3109/13816810.2011.559653.
  5. Xiao X, Mai G, Li S, Guo X, Zhang Q. Identification of CYP4V2 mutation in 21families and overview of mutation spectrum in Bietti crystalline corneoretinaldystrophy. Biochem Biophys Res Commun. 2011 Jun 3;409(2):181-6. doi:10.1016/j.bbrc.2011.04.112.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 770
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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