Chapter title |
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.
|
---|---|
Chapter number | 8 |
Book title |
Retinal Degenerative Diseases
|
Published in |
Advances in experimental medicine and biology, January 2006
|
DOI | 10.1007/0-387-32442-9_8 |
Pubmed ID | |
Book ISBNs |
978-0-387-28464-4, 978-0-387-32442-5
|
Authors |
Makoto Nakamura, Jian Lin, Koji Nishiguchi, Mineo Kondo, Jiro Sugita, Yozo Miyake, Nakamura, Makoto, Lin, Jian, Nishiguchi, Koji, Kondo, Mineo, Sugita, Jiro, Miyake, Yozo |
Editors |
Joe G. Hollyfield, Robert E. Anderson, Matthew M. LaVail |
Abstract |
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal dystrophy characterized by progressive night blindness, tiny, yellowish, glistening retinal crystals, choroidal sclerosis, and crystalline deposits in the peripheral cornea. Recent studies have demonstrated that the CYP4V2 gene which encodes a CYP450 family protein is the causative gene of the disease. We have identified a homozygous mutation in the CYP4V2 gene in 8 separate Japanese patients with BCD and conclude that mutations in the CYP4V2 gene are the major cause of BCD. The IVS6-8_c.810del/insGC mutation is found at a higher frequency in the Asian populations suggesting a founder effect. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 17% |
Germany | 1 | 17% |
Unknown | 4 | 67% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Professor | 2 | 33% |
Researcher | 2 | 33% |
Professor > Associate Professor | 1 | 17% |
Unknown | 1 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 3 | 50% |
Agricultural and Biological Sciences | 1 | 17% |
Biochemistry, Genetics and Molecular Biology | 1 | 17% |
Unknown | 1 | 17% |