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).

Keywords:  base excision repair (BER), Bloom syndrome, cancer, Cockayne syndrome, cornea, cunjunctiva, DNA helicase, DNA repair, eye, mismatch repair, nucleotide excision repair (NER), premature aging, retina, Rothmund-Thomson syndrome, trichothiodystrophy, UV light, xeroderma pigmentosum, Werner syndrome