Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.


Journal Article

To determine whether mutations in the optineurin gene contribute to susceptibility to adult-onset primary open-angle glaucoma.The optineurin gene was screened in 86 probands with adult-onset primary open-angle glaucoma and in 80 age-matched control subjects. Exons 4 and 5, containing the recurrent mutations identified in patients with normal-tension glaucoma, were sequenced in all individuals studied, while the remaining exons were screened for DNA sequence variants with denaturing high-performance liquid chromatography.The recurrent mutation, Met98Lys, previously found to be associated with an increased risk of disease was found in 8 (9%) of 86 probands. We also found the Met98Lys mutation in 10% of individuals from a control population of similar age, sex, and ethnicity. Consistent segregation of the mutation with the disease was not demonstrated in any of the 8 families. No other DNA changes altering the amino acid structure of the protein were found.The mutations in the optineurin gene associated with normal-tension glaucoma are not associated with adult-onset primary open-angle glaucoma in this patient population. Clinical Relevance Genetic abnormalities that render the optic nerve susceptible to degeneration are excellent candidates for genetic factors that could contribute to adult-onset primary open-angle glaucoma. Mutations in optineurin have been associated with normal-tension glaucoma, but are not associated with disease in patients with adult-onset primary open-angle glaucoma. This result may indicate that normal-tension glaucoma is not necessarily part of the phenotypic spectrum of adult open-angle glaucoma.

Full Text

Duke Authors

Cited Authors

  • Wiggs, JL; Auguste, J; Allingham, RR; Flor, JD; Pericak-Vance, MA; Rogers, K; LaRocque, KR; Graham, FL; Broomer, B; Del Bono, E; Haines, JL; Hauser, M

Published Date

  • August 2003

Published In

Volume / Issue

  • 121 / 8

Start / End Page

  • 1181 - 1183

PubMed ID

  • 12912697

Pubmed Central ID

  • 12912697

Electronic International Standard Serial Number (EISSN)

  • 1538-3601

International Standard Serial Number (ISSN)

  • 0003-9950

Digital Object Identifier (DOI)

  • 10.1001/archopht.121.8.1181


  • eng