Document Detail

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.
MedLine Citation:
PMID:  21684361     Owner:  NLM     Status:  MEDLINE    
Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xeroderma pigmentosum predominantly affects the ultraviolet (UV) exposed ocular surface, resulting in eyelid atrophy and cancers, corneal dryness, exposure keratopathy, and conjunctival tumors. We report the clinical history and ocular pathology of two white women who had xeroderma pigmentosum with neurological degeneration: Case 1 (died at age 44 years) and Case 2 (died at age 45 years). Case 1, with mutations in the XPA gene, had more than 180 basal cell carcinomas of her skin and eyelids and died from complications of neurodegeneration. Case 2, with mutations in the XPD gene, was sun-protected and had three skin cancers. She died from complications of neurodegeneration and pneumonia. Both patients had bilateral pinguecula, corneal pannus, and exposure keratopathy. Case 1 had bilateral optic atrophy, and Case 2 had bilateral peripheral retinal pigmentary degeneration. Both patients developed retinal gliosis. The ophthalmic manifestations and pathology of xeroderma pigmentosum are discussed and reviewed with respect to this report and other cases in the literature. These cases illustrate the role of DNA repair in protection of the eyes from UV damage and neurodegeneration of the retina.
Hema L Ramkumar; Brian P Brooks; Xiaoguang Cao; Deborah Tamura; John J Digiovanna; Kenneth H Kraemer; Chi-Chao Chan
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review    
Journal Detail:
Title:  Survey of ophthalmology     Volume:  56     ISSN:  1879-3304     ISO Abbreviation:  Surv Ophthalmol     Publication Date:    2011 Jul-Aug
Date Detail:
Created Date:  2011-06-20     Completed Date:  2011-08-26     Revised Date:  2013-06-28    
Medline Journal Info:
Nlm Unique ID:  0404551     Medline TA:  Surv Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  348-61     Citation Subset:  IM    
Copyright Information:
Published by Elsevier Inc.
Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
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MeSH Terms
Ciliary Body / pathology*
Fatal Outcome
Hamartoma / pathology*
Middle Aged
Neoplasms, Multiple Primary / pathology
Neurodegenerative Diseases / genetics,  pathology
Retinal Degeneration / genetics,  pathology*
Skin Neoplasms / pathology
Uveal Diseases / pathology*
Xeroderma Pigmentosum / genetics,  pathology*
Xeroderma Pigmentosum Group A Protein / genetics
Xeroderma Pigmentosum Group D Protein / genetics
Grant Support
ZIA EY000222-25/EY/NEI NIH HHS; ZIC EY000461-03/EY/NEI NIH HHS; //Howard Hughes Medical Institute
Reg. No./Substance:
0/Xeroderma Pigmentosum Group A Protein; EC 3.6.1.-/Xeroderma Pigmentosum Group D Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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