Bietti Crystalline Corneoretinal Dystrophy

Common Name(s)

Bietti Crystalline Corneoretinal Dystrophy

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 mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bietti Crystalline Corneoretinal Dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bietti Crystalline Corneoretinal Dystrophy" returned 3 free, full-text research articles on human participants. First 3 results:

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.
 

Author(s): Minghua Shan, Bing Dong, Xueqin Zhao, Jingzhao Wang, Genlin Li, Yongsheng Yang, Yang Li

Journal:

 

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive disorder of retinal degeneration characterized by small glittering crystals in the corneal limbus, posterior pole of the eye, and circulating lymphocytes. Recently mutations in a new gene CYP4V2, encoding a ...

Last Updated: 23 Sep 2005

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Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
 

Author(s): J Lin, K M Nishiguchi, M Nakamura, T P Dryja, E L Berson, Y Miyake

Journal: J. Med. Genet.. 2005 Jun;42(6):e38.

 

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder characterised by tiny yellowish glittering retinal crystals, choroidal sclerosis, and crystals in the peripheral cornea, associated with progressive night blindness. CYP4V2, encoding a ...

Last Updated: 6 Jun 2005

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Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
 

Author(s): Anren Li, Xiaodong Jiao, Francis L Munier, Daniel F Schorderet, Wenliang Yao, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, Muh Shy Chen, Richard Alan Lewis, John Heckenlively, Richard G Weleber, Elias I Traboulsi, Qingjiong Zhang, Xueshan Xiao, Muriel Kaiser-Kupfer, Yuri V Sergeev, J Fielding Hejtmancik

Journal: Am. J. Hum. Genet.. 2004 May;74(5):817-26.

 

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting ...

Last Updated: 16 Apr 2004

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Reviews from the PubMed Database

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The terms "Bietti Crystalline Corneoretinal Dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Genetics of Retinal Degenerations
 

Status: Recruiting

Condition Summary: Retinal Degeneration; Retinitis Pigmentosa

 

Last Updated: 11 Dec 2014

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