Display options
Share it on

Surv Ophthalmol. 2011 Jul-Aug;56(4):348-61. doi: 10.1016/j.survophthal.2011.03.001.

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.

Hema L Ramkumar, Brian P Brooks, Xiaoguang Cao, Deborah Tamura, John J Digiovanna, Kenneth H Kraemer, Chi-Chao Chan

Affiliations

  1. Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

PMID: 21684361 PMCID: PMC3137889 DOI: 10.1016/j.survophthal.2011.03.001

Abstract

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.

Published by Elsevier Inc.

References

  1. Ophthalmology. 2001 Nov;108(11):2088-98; quiz 2099-100, 2121 - PubMed
  2. Arch Ophthalmol. 1975 Aug;93(8):660-2 - PubMed
  3. J Pediatr. 1965 Oct;67(4):625-30 - PubMed
  4. Ann Dermatol Venereol. 2008 Feb;135(2):99-104 - PubMed
  5. Surv Ophthalmol. 2003 Jan-Feb;48(1):107-22 - PubMed
  6. Exp Eye Res. 1991 Apr;52(4):493-7 - PubMed
  7. Am J Dermatopathol. 1992 Oct;14(5):487-9 - PubMed
  8. Eur Arch Otorhinolaryngol. 2000;257(2):77-9 - PubMed
  9. Arch Neurol. 1978 Jun;35(6):337-45 - PubMed
  10. J Egypt Med Assoc. 1966;49(5):419-34 - PubMed
  11. Mutat Res. 2006 Oct 10;601(1-2):171-8 - PubMed
  12. Int Ophthalmol Clin. 2009 Winter;49(1):111-21 - PubMed
  13. Arch Ophthalmol. 1967 Jun;77(6):769-76 - PubMed
  14. Indian J Dermatol Venereol Leprol. 2005 Nov-Dec;71(6):430-1 - PubMed
  15. DNA Repair (Amst). 2008 May 3;7(5):744-50 - PubMed
  16. Arch Dermatol. 1987 Feb;123(2):241-50 - PubMed
  17. Nature. 1975 Feb 27;253(5494):748-9 - PubMed
  18. Br J Ophthalmol. 1992 Feb;76(2):120-2 - PubMed
  19. Nat New Biol. 1972 Jul 19;238(81):80-3 - PubMed
  20. Ceylon Med J. 1952 May;1(1):75-9 - PubMed
  21. Arch Dermatol. 1994 Aug;130(8):1018-21 - PubMed
  22. Clin Exp Ophthalmol. 2007 Mar;35(2):174-85 - PubMed
  23. Ann Ophthalmol. 1982 Jun;14(6):580-5 - PubMed
  24. Arch Dermatol. 1994 Feb;130(2):191-7 - PubMed
  25. J Indian Med Assoc. 1965 Nov 16;45(10):550-3 - PubMed
  26. Pediatr Dev Pathol. 2007 Mar-Apr;10(2):149-52 - PubMed
  27. Brain. 2008 Aug;131(Pt 8):1979-89 - PubMed
  28. Nat Rev Neurosci. 2009 Feb;10(2):100-12 - PubMed
  29. Br J Dermatol. 1965 May;77:261-76 - PubMed
  30. Carcinogenesis. 1984 Apr;5(4):511-4 - PubMed
  31. Am J Ophthalmol. 1964 May;57:760-3 - PubMed
  32. Int J Dermatol. 1999 Jul;38(7):511-4 - PubMed
  33. Ann Ophthalmol. 1979 Mar;11(3):445-8 - PubMed
  34. Can J Ophthalmol. 1972 Oct;7(4):435-44 - PubMed
  35. Clin Neuropathol. 2002 Jan-Feb;21(1):18-23 - PubMed
  36. Br J Ophthalmol. 1977 Feb;61(2):96-100 - PubMed
  37. J Dermatol. 1992 Nov;19(11):715-8 - PubMed
  38. Brain. 1991 Jun;114 ( Pt 3):1335-61 - PubMed
  39. Indian Pediatr. 2000 Dec;37(12):1377-9 - PubMed
  40. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):815-20 - PubMed
  41. Eye (Lond). 2004 Jul;18(7):741-3 - PubMed
  42. Ann Intern Med. 1974 Feb;80(2):221-48 - PubMed
  43. Arch Ophthalmol. 1997 Jun;115(6):808-15 - PubMed
  44. J Cutan Med Surg. 1998 Jan;2(3):153-8 - PubMed
  45. Am J Ophthalmol. 2001 Oct;132(4):576-8 - PubMed
  46. Int J Radiat Oncol Biol Phys. 1988 Mar;14(3):435-43 - PubMed
  47. J Pediatr. 1960 Nov;57:759-68 - PubMed
  48. Ophthalmologica. 1993;206(3):162-7 - PubMed
  49. Indian J Cancer. 1997 Mar;34(1):12-5 - PubMed
  50. Adv Exp Med Biol. 2008;637:120-7 - PubMed
  51. Indian J Ophthalmol. 1996 Sep;44(3):165-6 - PubMed
  52. Neurology. 2000 Nov 28;55(10):1442-9 - PubMed
  53. Arch Ophthalmol. 2000 May;118(5):711-5 - PubMed
  54. J Oral Maxillofac Surg. 2009 Jan;67(1):22-31 - PubMed
  55. J Pediatr Ophthalmol Strabismus. 1991 Nov-Dec;28(6):350-3 - PubMed
  56. Proc Natl Acad Sci U S A. 1978 Apr;75(4):1984-8 - PubMed
  57. Int J Dermatol. 1999 Jul;38(7):520-4 - PubMed
  58. Arch Ophthalmol. 1974 Aug;92(2):113-7 - PubMed
  59. Med Hypotheses. 1991 Feb;34(2):171-3 - PubMed
  60. Indian J Ophthalmol. 2008 Sep-Oct;56(5):421-3 - PubMed
  61. Eur J Paediatr Neurol. 2001;5(6):225-42 - PubMed
  62. Int J Dermatol. 1986 Dec;25(10):629-33 - PubMed
  63. Arch Dermatol. 2009 Aug;145(8):944-7 - PubMed
  64. Doc Ophthalmol. 1986 Dec 30;64(1):97-103 - PubMed
  65. Cornea. 2003 Oct;22(7):640-50 - PubMed
  66. Arch Ophthalmol. 1983 Jul;101(7):1093-7 - PubMed
  67. Br J Ophthalmol. 1993 Sep;77(9):597-8 - PubMed
  68. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9463-8 - PubMed
  69. J Am Acad Dermatol. 1992 Jan;26(1):75-8 - PubMed
  70. N Engl J Med. 1988 Jun 23;318(25):1633-7 - PubMed
  71. J Am Acad Dermatol. 2008 Nov;59(5):881-6 - PubMed
  72. Curr Opin Ophthalmol. 2010 Sep;21(5):380-6 - PubMed
  73. Neuroscience. 2007 Apr 14;145(4):1388-96 - PubMed
  74. Am J Ophthalmol. 2003 Jan;135(1):122-3; author reply 123-4 - PubMed
  75. J Med Genet. 2011 Mar;48(3):168-76 - PubMed
  76. Br J Ophthalmol. 1963 Nov;47:687-9 - PubMed
  77. AMA Arch Ophthalmol. 1959 Jul;62(1):130-3 - PubMed
  78. Proc Natl Acad Sci U S A. 1997 Jan 7;94(1):11-4 - PubMed
  79. Ophthalmologica. 1976;173(3-4):290-1 - PubMed
  80. Graefes Arch Clin Exp Ophthalmol. 1992;230(4):352-7 - PubMed
  81. Cornea. 1992 Mar;11(2):173-82 - PubMed
  82. Arch Ophthalmol. 1989 Mar;107(3):402-7 - PubMed
  83. Br J Dermatol. 1962 Jun;74:201-13 - PubMed
  84. Surv Ophthalmol. 2004 Jan-Feb;49(1):3-24 - PubMed
  85. Nature. 1968 May 18;218(5142):652-6 - PubMed
  86. Br J Ophthalmol. 1994 Apr;78(4):295-7 - PubMed

Substances

MeSH terms

Publication Types

Grant support