[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: Katarzyna Woźniak, Dorota Kuc, Janusz Błasiak, Anna K Kurowska, Jerzy Szaflik, Jacek P Szaflik
• Journal: Klinika oczna (Klin Oczna) Vol. 116 Issue 2 Pg. 142-5 ( 2014) ISSN: 0023-2157 [Print] Poland
• Vernacular Title: Zaburzenia narzadu wzroku w przebiegu chorób genetycznych zwiazanych z naprawa DNA.
• PMID: 25345296 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Cockayne Syndrome (genetics)
• DNA Damage
• DNA Repair-Deficiency Disorders (complications, genetics)
• Eye Diseases, Hereditary (diagnosis, genetics)
• Hair Diseases (genetics)
• Humans
• Ichthyosis (genetics)
• Mental Disorders (genetics)
• Phenotype
• Xeroderma Pigmentosum (genetics)