Ocular Manifestations in the Inherited DNA Repair Disorders
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...
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| Published in | Survey of ophthalmology Vol. 48; no. 1; pp. 107 - 122 |
|---|---|
| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York, NY
Elsevier Inc
2003
Elsevier Science |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0039-6257 1879-3304 |
| DOI | 10.1016/S0039-6257(02)00400-9 |
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| 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). |
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| AbstractList | 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). 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).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). |
| Author | Porto, Fernanda Caussade, Patrick Speeg-Schatz, Claude Dollfus, Hélène Sarasin, Alain Sahel, José Flament, Jacques Grosshans, Edouard |
| Author_xml | – sequence: 1 givenname: Hélène surname: Dollfus fullname: Dollfus, Hélène organization: Fédération de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – sequence: 2 givenname: Fernanda surname: Porto fullname: Porto, Fernanda organization: Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – sequence: 3 givenname: Patrick surname: Caussade fullname: Caussade, Patrick – sequence: 4 givenname: Claude surname: Speeg-Schatz fullname: Speeg-Schatz, Claude organization: Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – sequence: 5 givenname: José surname: Sahel fullname: Sahel, José organization: Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – sequence: 6 givenname: Edouard surname: Grosshans fullname: Grosshans, Edouard organization: Clinique de Dermatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – sequence: 7 givenname: Jacques surname: Flament fullname: Flament, Jacques organization: Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – sequence: 8 givenname: Alain surname: Sarasin fullname: Sarasin, Alain organization: Laboratory of Genetic Instability and Cancer, UPR2169 - CNRS, Villejuif, France |
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| Keywords | base excision repair (BER) Cockayne syndrome cunjunctiva cornea nucleotide excision repair (NER) mismatch repair xeroderma pigmentosum Rothmund-Thomson syndrome trichothiodystrophy DNA repair premature aging UV light DNA helicase eye Bloom syndrome retina cancer Werner syndrome Chromosome fragility Skin disease Ocular Hyperkeratosis Diseases of the osteoarticular system Xeroderma pigmentosum ENT disease Diagnosis Complex syndrome Repair Human Dyskeratosis Photosensitivity Nervous system diseases Pigmentation disorder Disorder Genetic disease Ichthyosis Symptomatology Eye disease Photodermatosis DNA Bibliographic review |
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| SubjectTerms | base excision repair (BER) Base Pair Mismatch Biological and medical sciences Bloom syndrome cancer Cockayne syndrome Cockayne Syndrome - genetics cornea cunjunctiva DNA Damage DNA helicase DNA Helicases - deficiency DNA repair DNA Repair - genetics eye Eye Diseases, Hereditary - genetics Eye Diseases, Hereditary - pathology Hair Diseases - genetics Humans Ichthyosis - genetics Medical sciences Mental Disorders - genetics Miscellaneous mismatch repair nucleotide excision repair (NER) Ophthalmology premature aging retina Rothmund-Thomson syndrome trichothiodystrophy UV light Werner syndrome xeroderma pigmentosum Xeroderma Pigmentosum - genetics |
| Title | Ocular Manifestations in the Inherited DNA Repair Disorders |
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