title: Ocular manifestations in the inherited DNA repair disorders.
abstract: Deoxyribonucleic acid (DNA) repair is a fundamental process designed to keep the integrity of genomic DNA that is continuously challenged by intrinsic or environmental induced alterations. Numerous genes involved in DNA repair have been cloned and are involved in different DNA repair pathways: base excision repair, nucleotide excision repair, mismatch repair, DNA recombination. Inherited conditions due to mutations in DNA repair genes include mainly: xeroderma pigmentosum, Cockayne syndrome, Trichothiodystrophy, Bloom syndrome, Rothmund-Thomson syndrome, and Werner syndrome. Minor to major ocular manifestations occur in these syndromes. For example, eyelid skin cancers in xeroderma pigmentosum and retinal dystrophy in Cockayne syndrome are major features of these syndromes. This review focuses on the DNA repair pathways, the general and ocular features of the related syndromes, the laboratory tests useful for diagnosis, and the general processes implied with DNA repair (ultraviolet sensitivity, carcinogenesis, apoptosis, oxydative stress, and premature aging).
authors.affiliation: Fédération de Génétique Médicale, Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.forename: Fernanda
authors.initials: F
authors.lastname: Porto
authors.forename: Patrick
authors.initials: P
authors.lastname: Caussade
authors.forename: Claude
authors.initials: C
authors.lastname: Speeg-Schatz
authors.forename: José
authors.initials: J
authors.lastname: Sahel
authors.forename: Edouard
authors.initials: E
authors.lastname: Grosshans
authors.forename: Jacques
authors.initials: J
authors.lastname: Flament
authors.forename: Alain
authors.initials: A
authors.lastname: Sarasin
mesh_terms: D020137:Base Pair Mismatch; D003057:Cockayne Syndrome / Q000235:genetics; D004249:DNA Damage; D004265:DNA Helicases / Q000172:deficiency; D004260:DNA Repair / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics
chemical_list: D004265:DNA Helicases