title: [Ocular manifestations in hereditary diseases with defects in DNA repair].
abstract: DNA repair is involved in maintaining the stability of the genome and accurate sending of genetic information. DNA repair pathways remove many DNA damages induced by endo- and exogenous factors. There are several DNA repair pathways in human cells, including base or nucleotide excision system, homologous recombination system and non-homologous end joining. Mutation in DNA repair genes may results in rare genetic disorders, including Xeroderma pigmentosum, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, ataxia teleangiectasia, Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome. These diseases may be associated with various visual disturbances. In this work we review we focus on human genetic diseases linked with mutations in DNA repair genes associated with visual impairment.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Woźniak
authors.forename: Dorota
authors.initials: D
authors.lastname: Kuc
authors.forename: Janusz
authors.initials: J
authors.lastname: Błasiak
authors.forename: Anna K
authors.initials: AK
authors.lastname: Kurowska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
authors.forename: Jacek P
authors.initials: JP
authors.lastname: Szaflik
mesh_terms: D003057:Cockayne Syndrome / Q000235:genetics; D004249:DNA Damage; D049914:DNA Repair-Deficiency Disorders / Q000150:complications / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics; D010641:Phenotype; D014983:Xeroderma Pigmentosum / Q000235:genetics