Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1077-82. doi: 10.1007/s00417-005-0079-3. Epub 2006 Jan 27.


Purpose: To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG).

Methods: Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced.

Results: We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant.

Conclusions: In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cell Cycle Proteins
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Female
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics
  • Transcription Factor TFIIIA / genetics*


  • Cell Cycle Proteins
  • Membrane Transport Proteins
  • OPTN protein, human
  • RNA, Messenger
  • Transcription Factor TFIIIA