Survey of Ophthalmology
Volume 48, Issue 1 , Pages 107-122 , January 2003

Ocular Manifestations in the Inherited DNA Repair Disorders

  • Hélène Dollfus, MD, PhD

      Affiliations

    • Corresponding Author InformationReprint address: Hélène Dollfus, Fédération de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, BP 426, 67091 Strasbourg cedex, France
    • Fédération de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    • Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • ,
  • Fernanda Porto, MD

      Affiliations

    • Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • ,
  • Patrick Caussade, MD
  • ,
  • Claude Speeg-Schatz, MD, PhD

      Affiliations

    • Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • ,
  • José Sahel, MD

      Affiliations

    • Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • ,
  • Edouard Grosshans, MD

      Affiliations

    • Clinique de Dermatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • ,
  • Jacques Flament, MD

      Affiliations

    • Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • ,
  • Alain Sarasin, PhD

      Affiliations

    • Laboratory of Genetic Instability and Cancer, UPR2169 - CNRS, Villejuif, France

References 

  1. Alapetite C, Benoit A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol. 1997;108:154–159
  2. Andrews AD, Barrett SF, Yoder FW, Robbins JH. Cockaynes syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol. 1978;70:237–239
  3. Beatty S, Koh H, Phil M, et al.  The role of oxidative stress in the pathogenesis of age-related macular degeneration. Surv Ophthalmol. 2000;45:115–134
  4. Berg E, Chuang TY, Cripps D. Rothmund-Thomson syndrome. A case report, phototesting, and literature review. J Am Acad Dermatol. 1987;17:332–338
  5. Bergmann E, Egly JM. Trichothiodystrophy, a transcription syndrome. Trends Genet. 2001;17:279–286
  6. Berneburg M, Clingen PH, Harcourt SA, et al.  The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect. Cancer Res. 2000;60:431–438
  7. Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ. Nucleotide excission repair syndromes (xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy). In:  Vogelstein B,  Kinzler KW editor. The Genetic Basis of Human Cancer. New York: McGraw-Hill; 1998;p. 245–274
  8. Botta E, Nardo T, Broughton BC, et al.  Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy (site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity). Am J Hum Genet. 1998;63:1036–1048
  9. Boutimzine N, el Moussaif H, Lezrek M, et al: [Werner syndrome. Apropos of a case]. J Fr Ophtalmol 21:443–7, 1998
  10. Brash DE. Sunlight and the onset of skin cancer. Trends Genet. 1997;13:410–414
  11. Brodrick JD, Dark AJ. Corneal dystrophy in Cockaynes syndrome. Br J Ophthalmol. 1973;57:391–399
  12. Broughton BC, Cordonnier A, Kleijer WJ, et al.  Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci USA. 2002;99:815–820
  13. Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR. Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet. 1994;7:189–194
  14. Brougthon BC, Berneburg M, Fawcette H, et al.  Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet. 2002;10:2539–2547
  15. Cai J, Nelson KC, Wu M, et al.  Oxidative damage and protection of the RPE. Prog Retin Eye Res. 2000;19:205–221
  16. Carmody RJ, Cotter TG. Oxidative stress induces caspase-independent retinal apoptosis in vitro. Cell Death Differ. 2000;7:282–291
  17. Chu G, Mayne L. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy (do the genes explain the diseases?). Trends Genet. 1996;12:187–192
  18. Cleaver JE. Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. J Dermatol Sci. 2000;23:1–11
  19. Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature. 1968;218:652–656
  20. Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders (xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy). Hum Mutat. 1999;14:9–22
  21. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1946;21:52–54
  22. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936;11:1–8
  23. Cohen SY, Gaudric A, Lemerle S, et al: [Rothmunds syndrome]. J Fr Ophtalmol 12:583–5, 1989
  24. Coin F, Bergmann E, Tremeau-Bravard A, Egly JM. Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J. 1999;18:1357–1366
  25. Coin F, Marinoni JC, Rodolfo C, et al.  Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genet. 1998;20:184–188
  26. Coles WH. Ocular manifestations of Cockaynes syndrome. Am J Ophthalmol. 1969;67:762–764
  27. Costet C, Lods F, Ortonne JP, Elbaze P: [Rothmund-Thomson syndrome. Apropos of a case]. Bull Soc Ophtalmol Fr 85:651–3, 1985
  28. Day RS. Xeroderma pigmentosum variants have decreased repair of ultraviolet- damaged DNA. Nature. 1975;253:748–749
  29. De Boer J, Hoeijmakers JHJ. Cancer from the outside, aging from the inside (mouse models to study the consequences of dectective nucleotide excision repair). Biochimie. 1999;81:127–137
  30. de Boer J, Hoeijmakers JH. Nucleotide excision repair and human syndromes. Carcinogenesis. 2000;21:453–460
  31. de Laat WL, Jaspers NG, Hoeijmakers JH. Molecular mechanism of nucleotide excision repair. Genes Dev. 1999;13:768–785
  32. De Sanctis C, Cacchione A. L'idiozia xerodermica. Riv Sper Freniatr. 1932;56:269
  33. Drapkin R, Reardon JT, Ansari A, et al.  Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II. Nature. 1994;368:769–772
  34. Egly JM. Tfiih (from transcription to clinic). FEBS Lett. 2001;248:124–128
  35. Ellis NA, Groden J, Ye TZ, et al.  The Blooms syndrome gene product is homologous to RecQ helicases. Cell. 1995;83:655–666
  36. Epstein JH, Fukuyama K, Reed WB, Epstein WL. Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo. Science. 1970;168:1477–1478
  37. Evans E, Moggs JG, Hwang JR, et al.  Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J. 1997;16:6559–6573
  38. Eveno E, Bourre F, Quilliet X, et al.  Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res. 1995;55:4325–4332
  39. Ferreira RC, Roeder ER, Bateman JB. Cataract in early onset and classic Cockayne syndrome. Ophthalmic Genet. 1997;18:193–197
  40. Fois A, Balestri P, Calvieri S, et al.  Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies. Eur J Pediatr. 1988;147:439–441
  41. Frei C, Gasser SM. RecQ-like helicases (the DNA replication checkpoint connection). J Cell Sci. 2000;113:2641–2646
  42. German J. Blooms syndrome. Dermatol Clin. 1995;13:7–18
  43. German J. Bloom's syndrome (incidence, age of onset, and types of leukemia in the Bloom's syndrome Registry). In:  Bartsocas CS,  Loukopoulos D editor. Genetics of hematological disorders. Washington, DC: Hemisphere Publishers; 1992;p. 241–258
  44. German J, Archibald R, Bloom D. Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science. 1965;148:506–507
  45. Gibbons B, Scott D, Hungerford JL, et al.  Retinoblastoma in association with the chromosome breakage syndromes Fanconis anaemia and Blooms syndrome (clinical and cytogenetic findings). Clin Genet. 1995;47:311–317
  46. Goto M. Werners syndrome (from clinics to genetics). Clin Exp Rheumatol. 2000;18:760–766
  47. Gotz ME, Kunig G, Riederer P, Youdim MB. Oxidative stress (free radical production in neural degeneration). Pharmacol Ther. 1994;63:37–122
  48. Goyal JL, Rao VA, Srinivasan R, Agrawal K. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol. 1994;78:295–297
  49. Gray MD, Shen JC, Kamath-Loeb AS, et al.  The Werner syndrome protein is a DNA helicase. Nat Genet. 1997;17:100–103
  50. Greenhaw GA, Hebert A, Duke-Woodside ME, et al.  Xeroderma pigmentosum and Cockayne syndrome (overlapping clinical and biochemical phenotypes). Am J Hum Genet. 1992;50:677–689
  51. Hanawalt PC. DNA repair. The bases for Cockayne syndrome. Nature. 2000;405:415–416
  52. Hanawalt PC. Transcription-coupled repair and human disease. Science. 1994;266:1957–1958
  53. Hebra F, Kaposi M. On diseases of the skin including exanthemata. New Synddenham Soc. 1874;61:252–258
  54. Hertle RW, Durso F, Metzler JP, Varsa EW. Epibulbar squamous cell carcinomas in brothers with Xeroderma pigmentosa. J Pediatr Ophthalmol Strabismus. 1991;28:350–353
  55. Hoar DI, Waghorne C. DNA repair in Cockayne syndrome. Am J Hum Genet. 1978;30:590–601
  56. Hoeijmakers JHJ. Human nucleotide excision repair syndromes (molecular clues to unexpected intricacies). Eur J Cancer. 1994;30:1912–1921
  57. Hoeijmakers JHJ, Egly JM, Vermeulen W. Tfiih (A key component in multiple dna transactions). Curr Opin Gen Dev. 1996;6:26–33
  58. Huang S, Li B, Gray MD, et al.  The premature ageing syndrome protein, WRN, is a 3-5 exonuclease. Nat Genet. 1998;20:114–116
  59. Hullo A, Durand L, Holl P, Galle P: [Werners syndrome, apropos of 2 cases]. Bull Soc Ophtalmol Fr 82:835–40, 1982
  60. Itin PH, Pittelkow MR. Trichothiodystrophy (review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias). J Am Acad Dermatol. 1990;22:705–717
  61. Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy (update on the sulfur-deficient brittle hair syndromes). J Am Acad Dermatol. 2001;44:891–920 quiz 921–4
  62. Jiricny J, Nystrom-Lahti M. Mismatch repair defects in cancer. Curr Opin Genet Dev. 2000;10:157–161
  63. Johnson MW, Skuta GL, Kincaid MC, et al.  Malignant melanoma of the iris in xeroderma pigmentosum. Arch Ophthalmol. 1989;107:402–407
  64. Jung EG. Xeroderma pigmentosum. Int J Dermatol. 1986;25:629–633
  65. Karow JK, Chakraverty RK, Hickson ID. The Blooms syndrome gene product is a 3-5 DNA helicase. J Biol Chem. 1997;272:30611–30614
  66. Kitao S, Shimamoto A, Goto M, et al.  Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999;22:82–84
  67. Kocabora MS, Kurkcuoglu AR, Engin G, et al: [Cataract surgery by phacoemulsification in Werners syndrome]. J Fr Ophtalmol 23:1012–5, 2000
  68. Kraemer KH. Sunlight and skin cancer (another link revealed). Proc Natl Acad Sci USA. 1997;94:11–14
  69. Kraemer KH, Lee MM, Andrews AD, Lambert WC. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol. 1994;130:1018–1021
  70. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in. 1987;830(published cases. Arch Dermatol 123):241–250
  71. Kraemer KH, Lee MM, Scotto J. DNA repair protects against cutaneous and internal neoplasia (evidence from xeroderma pigmentosum). Carcinogenesis. 1984;5:511–514
  72. Kraemer KH, Levy DD, Parris CN. Xeroderma pigmentosum and related disorders (examining the linkage between defective DNA repair and cancer). J Invest Dermatol. 1994;103(Suppl):96s–101s
  73. Kremer I, Ingber A, Ben-Sira I. Corneal metastatic calcification in Werners syndrome. Am J Ophthalmol. 1988;106:221–226
  74. Le Page F, Kwoh EE, Avrutskaya A, et al.  Transcription-coupled repair of 8-oxoguanine (requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome). Cell. 2000;101:159–171
  75. Leadon SA. Transcription-coupled repair of DNA damage (unanticipated players, unexpected complexities). Am J Hum Genet. 1999;64:1259–1263
  76. Lehmann AR. Dual functions of DNA repair genes (molecular, cellular, and clinical implications). Bioessays. 1998;20:146–155
  77. Lehmann AR. Nucleotide excision repair and the link with transcription. Trends Biochem Sci. 1995;20:402–405
  78. Lehmann AR. Cockayne's syndrome and trichothiodystrophy (defective repair without cancer). Cancer Rev. 1987;7:82–103
  79. Lehmann AR. Three complementation groups in Cockayne syndrome. Mutat Res. 1982;106:347–356
  80. Lehmann AR, Arlett CF, Broughton BC, et al.  Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res. 1988;48:6090–6096
  81. Lehmann AR, Francis AJ, Giannelli F. Prenatal diagnosis of Cockaynes syndrome. Lancet. 1985;1:486–488
  82. Lehmann AR, Thompson AF, Harcourt SA, et al.  Cockaynes syndrome (correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation). J Med Genet. 1993;30:679–682
  83. Levin PS, Green WR, Victor DI, MacLean AL. Histopathology of the eye in Cockaynes syndrome. Arch Ophthalmol. 1983;101:1093–1097
  84. Lindahl T, Karran P, Wood RD. DNA excision repair pathways. Curr Opin Genet Dev. 1997;7:158–169
  85. Lindor NM, Furuichi Y, Kitao S, et al.  Rothmund-Thomson syndrome due to RECQ4 helicase mutations (report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome). Am J Med Genet. 2000;90:223–228
  86. Lohman TM, Bjornson KP. Mechanisms of helicase-catalyzed DNA unwinding. Annu Rev Biochem. 1996;65:169–214
  87. Marak GE, de Kozak Y, Faure JP. Free radicals and antioxidants in the pathogenesis of eye diseases. Adv Exp Med Biol. 1990;264:513–527
  88. Marionnet C, Armier J, Sarasin A, Stary A. Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproducts in DNA repair-deficient trichothiodystrophy cells. Cancer Res. 1998;58:102–108
  89. Marionnet C, Benoit A, Benhamou S, et al.  Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene- mutated xeroderma pigmentosum and trichothiodystrophy cells. J Mol Biol. 1995;252:550–562
  90. Martin GM. The Werner mutation (does it lead to a public or private mechanism of aging?). Mol Med. 1997;3:356–358
  91. Mayne LV, Lehmann AR. Failure of RNA synthesis to recover after UV irradiation (an early defect in cells from individuals with Cockaynes syndrome and xeroderma pigmentosum). Cancer Res. 1982;42:1473–1478
  92. McElvanney AM, Wooldridge WJ, Khan AA, Ansons AM. Ophthalmic management of Cockaynes syndrome. Eye. 1996;10:61–64
  93. Melaragno MI, Pagni D, Smith MA. Cytogenetic aspects of Werners syndrome lymphocyte cultures. Mech Ageing Dev. 1995;78:117–122
  94. Mohaghegh P, Hickson ID. DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum Mol Genet. 2001;10:741–746
  95. Mondello C, Nardo T, Giliani S, et al.  Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D. Mutat Res. 1994;314:159–165
  96. Moriwaki S, Kraemer KH. Xeroderma pigmentosum—bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed. 2001;17:47–54
  97. Mullenders LH, van Kesteren van Leeuwen AC, van Zeeland AA, Natarajan AT. Nuclear matrix associated DNA is preferentially repaired in normal human fibroblasts, exposed to a low dose of ultraviolet light but not in Cockaynes syndrome fibroblasts. Nucleic Acids Res. 1988;16:10607–10622
  98. Nance MA, Berry SA. Cockayne syndrome (review of 140 cases). Am J Med Genet. 1992;42:68–84
  99. Nehlin JO, Skovgaard GL, Bohr VA. The Werner syndrome. A model for the study of human aging. Ann N Y Acad Sci. 2000;908:167–179
  100. Norbury CJ, Hickson ID. Cellular responses to DNA damage. Annu Rev Pharmacol Toxicol. 2001;41:367–401
  101. O'Brien TP, Wilhelmus KR. Bacterial keratitis in trichothiodystrophy. Can J Ophthalmol. 1995;30:270–271
  102. Otsuka F, Robbins JH. The Cockayne syndrome—an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum. Am J Dermatopathol. 1985;7:387–392
  103. Ourgaud A, Merlihot JM, Alessi F, Pommier De Santi P: [Rothmunds syndrome. A propos of a case]. Bull Soc Ophtalmol Fr 75:721–6, 1975
  104. Patton MA, Giannelli F, Francis AJ, et al.  Early onset Cockaynes syndrome (case reports with neuropathological and fibroblast studies). J Med Genet. 1989;26:154–159
  105. Pearce WG. Ocular and genetic features of Cockaynes syndrome. Can J Ophthalmol. 1972;7:435–444
  106. Peltomaki P. Deficient DNA mismatch repair (a common etiologic factor for colon cancer). Hum Mol Genet. 2001;10:735–740
  107. Portera-Cailliau C, Sung CH, Nathans J, Adler R. Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc Natl Acad Sci USA. 1994;91:974–978
  108. Price VH. Trichothiodystrophy (update). Pediatr Dermatol. 1992;9:369–370
  109. Price VH, Odom RB, Ward WH, Jones FT. Trichothiodystrophy (sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex). Arch Dermatol. 1980;116:1375–1384
  110. Proops R, Taylor AM, Insley J. A clinical study of a family with Cockaynes syndrome. J Med Genet. 1981;18:288–293
  111. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. Variable presentation of Rothmund-Thomson syndrome. Am J Med Genet. 2000;95:204–207
  112. Quintero RA, Morales WJ, Gilbert-Barness E, et al.  In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy. Fetal Diagn Ther. 2000;15:152–155
  113. Ramsay CA, Coltart TM, Blunt S, et al.  Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case. Lancet. 1974;2:1109–1112
  114. Rebora A, Crovato F. PIBI(D)S syndrome—trichothiodystrophy with xeroderma pigmentosum (group D) mutation. J Am Acad Dermatol. 1987;16:940–947
  115. Reme C, Reinboth J, Clausen M, Hafezi F. Light damage revisited (converging evidence, diverging views?). Graefes Arch Clin Exp Ophthalmol. 1996;234:2–11
  116. Richard D: Syndrome de Werner ou progeria de l'adulte. Thesis. Faculté de Médecine. Université Louis Pasteur:5–18, 1976
  117. Riou L, Zeng L, Chevallier-Lagente O, et al.  The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockaynes syndrome or trichothiodystrophy cellular phenotypes. Hum Mol Genet. 1999;8:1125–1133
  118. Rosenthal G, Assa V, Monos T, et al.  Werners syndrome. Br J Ophthalmol. 1996;80:576–577
  119. Rouberol F, Burillon C, Kodjikian L, et al: [Conjunctival epithelial carcinoma in a 9-year-old child with xeroderma pigmentosum. Case report]. J Fr Ophtalmol 24:639–42, 2001
  120. Ruprecht KW, Jonas JB, Naumann GO: [Corneal complications following microsurgical interventions in patients with Werner syndrome—report on 9 patients]. Fortschr Ophthalmol 84:329–32, 1987
  121. Sahn EE, Hussey RH, Christmann LM. A case of Bloom syndrome with conjunctival telangiectasia. Pediatr Dermatol. 1997;14:120–124
  122. Sancar A. DNA excision repair. Annu Rev Biochem. 1996;65:43–81
  123. Sancar A. Mechanisms of DNA excision repair. Science. 1994;266:1954–1956
  124. Sarasin A, Blanchet-Bardon C, Renault G, et al.  Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair. Br J Dermatol. 1992;127:485–491
  125. Satoh MS, Lindahl T. Enzymatic repair of oxidative DNA damage. Cancer Res. 1994;54:1899s–1901s
  126. Schaeffer L, Roy R, Humbert S, et al.  DNA repair helicase (a component of BTF2 (TFIIH) basic transcription factor). Science. 1993;260:58–63
  127. Scott RJ, Itin P, Kleijer WJ, et al.  Xeroderma pigmentosum-Cockayne syndrome complex in two patients (absence of skin tumors despite severe deficiency of DNA excision repair). J Am Acad Dermatol. 1993;29:883–889
  128. Shen J, Loeb LA. Unwinding the molecular basis of the Werner syndrome. Mech Ageing Dev. 2001;122:921–944
  129. Shen JC, Loeb LA. The Werner syndrome gene (the molecular basis of RecQ helicase- deficiency diseases). Trends Genet. 2000;16:213–220
  130. Sri-Skanda-Rajah-Sivayoham I, Ratnaike VT. Rothmund-Thomson syndrome in an oriental patient. Ann Ophthalmol. 1975;7:417–420
  131. Starr DG, McClure JP, Connor JM. Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet. 1985;27:102–104
  132. Stary A, Sarasin A. The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes. Cancer Surv. 1996;26:155–171
  133. Stefanini M, Fawcett H, Botta E, et al.  Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet. 1996;97:418–423
  134. Stefanini M, Lagomarsini P, Giliani S, et al.  Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis. 1993;14:1101–1105
  135. Stefanini M, Vermeulen W, Weeda G, et al.  A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am J Hum Genet. 1993;53:817–821
  136. Sugita T, Ikenaga M, Suehara N, et al.  Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells. Clin Genet. 1982;22:137–142
  137. Sung P, Bailly V, Weber C, et al.  Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature. 1993;365:852–855
  138. Takayama K, Salazar EP, Broughton BC, et al.  Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am J Hum Genet. 1996;58:263–270
  139. Taylor EM, Broughton BC, Botta E, et al.  Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci USA. 1997;94:8658–8663
  140. Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. 1992;114:579–583
  141. Travis GH. Mechanisms of cell death in the inherited retinal degenerations. Am J Hum Genet. 1998;62:503–508
  142. van Steeg H, Kraemer KH. Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer. Mol Med Today. 1999;5:86–94
  143. Venema J, Mullenders LH, Natarajan AT, et al.  The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA. 1990;87:4707–4711
  144. Vennos EM, Collins M, James WD. Rothmund-Thomson syndrome (review of the world literature). J Am Acad Dermatol. 1996;27:750–762
  145. Vermeulen W, Bergmann E, Auriol J, et al.  Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nat Genet. 2000;26:307–313
  146. Vermeulen W, Scott RJ, Rodgers S, et al.  Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet. 1994;54:191–200
  147. Villani G, Tanguy Le Gac N. Interactions of DNA helicases with damaged DNA (possible biological consequences). J Biol Chem. 2000;275:33185–33188
  148. Wang LL, Levy ML, Lewis RA, et al.  Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001;102:11–17
  149. Weeda G, Eveno E, Donker I, et al.  A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet. 1997;60:320–329
  150. Weeda G, van Ham RC, Vermeulen W, et al.  A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockaynes syndrome. Cell. 1990;62:777–791
  151. Winkler GS, Hoeijmakers JH. From a DNA helicase to brittle hair. Nat Genet. 1998;20:106–107
  152. Wood RD. DNA repair in eukaryotes. Annu Rev Biochem. 1996;65:135–167
  153. Wood RD. DNA repair. Seven genes for three diseases. Nature. 1991;350:190
  154. Wrona MZ, Dryhurst G. Oxidation of serotonin by superoxide radical (implications to neurodegenerative brain disorders). Chem Res Toxicol. 1998;11:639–650
  155. Zhou BB, Elledge SJ. The DNA damage response (putting checkpoints in perspective). Nature. 2000;408:433–439

 The authors reported no proprietary or commercial interest in any product mentioned or concept discussed in this article.

PII: S0039-6257(02)00400-9

Survey of Ophthalmology
Volume 48, Issue 1 , Pages 107-122 , January 2003