Ocular Manifestations in the Inherited DNA Repair Disorders

• Published in: Survey of ophthalmology Vol. 48; no. 1; pp. 107 - 122
• Main Authors: Dollfus, Hélène, Porto, Fernanda, Caussade, Patrick, Speeg-Schatz, Claude, Sahel, José, Grosshans, Edouard, Flament, Jacques, Sarasin, Alain
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 2003; Elsevier Science
• Subjects: 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; 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
• ISSN: 0039-6257; 1879-3304
• DOI: 10.1016/S0039-6257(02)00400-9

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).