Title |
Ocular Manifestations of Xeroderma Pigmentosum Long-Term Follow-up Highlights the Role of DNA Repair in Protection from Sun Damage
|
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Published in |
Ophthalmology, April 2013
|
DOI | 10.1016/j.ophtha.2012.12.044 |
Pubmed ID | |
Authors |
Brian P. Brooks, Amy H. Thompson, Rachel J. Bishop, Janine A. Clayton, Chi-Chao Chan, Ekaterini T. Tsilou, Wadih M. Zein, Deborah Tamura, Sikandar G. Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Nicholas T. Iliff, Porcia Bradford, John J. DiGiovanna, Kenneth H. Kraemer |
Abstract |
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes, and ocular surfaces. This report describes the ocular manifestations of XP in patients systematically evaluated in the Clinical Center at the National Institutes of Health. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Austria | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 97 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 13 | 13% |
Student > Master | 13 | 13% |
Student > Bachelor | 12 | 12% |
Other | 7 | 7% |
Student > Doctoral Student | 6 | 6% |
Other | 19 | 20% |
Unknown | 27 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 33 | 34% |
Biochemistry, Genetics and Molecular Biology | 7 | 7% |
Agricultural and Biological Sciences | 7 | 7% |
Psychology | 3 | 3% |
Nursing and Health Professions | 2 | 2% |
Other | 11 | 11% |
Unknown | 34 | 35% |