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Bietti crystalline corneoretinal dystrophy
Other Names for this Disease
- Bietti tapetoretinal degeneration with marginal corneal dystrophy
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mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms 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 loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by
Last updated: 7/5/2011
- Facts About Bietti's Crystalline Dystrophy. National Eye Institute. July 2011; http://www.nei.nih.gov/health/biettis/bietti.asp. Accessed 7/5/2011.
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- Genetics Home Reference (GHR) contains information on Bietti crystalline corneoretinal dystrophy. This website is maintained by the National Library of Medicine.
- The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bietti crystalline corneoretinal dystrophy. Click on the link to view a sample search on this topic.