Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A) Academic Article uri icon

abstract

  • BACKGROUND:A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in the chromosome 1 open-angle glaucoma gene (GLC1A), which encodes a 57-kd protein known as myocilin. The normal role of this protein and the mechanism by which mutations cause glaucoma are not known. METHODS:We screened 716 patients with primary open-angle glaucoma and 596 control subjects for sequence changes in the GLC1A gene. RESULTS:We identified 16 sequence variations that met the criteria for a probable disease-causing mutation because they altered the predicted amino acid sequence and they were found in one or more patients with glaucoma, in less than 1 percent of the control subjects. These 16 mutations were found in 33 patients (4.6 percent). Six of the mutations were found in more than 1 subject (total, 99). Clinical features associated with these six mutations included an age at diagnosis ranging from 8 to 77 years and maximal recorded intraocular pressures ranging from 12 to 77 mm Hg. CONCLUSIONS:A variety of mutations in the GLC1A gene are associated with glaucoma. The spectrum of disease can range from juvenile glaucoma to typical late-onset primary open-angle glaucoma.

authors

  • Alward, Wallace LM
  • Fingert, John H
  • Coote, Michael A
  • Johnson, A Tim
  • Lerner, S Fabian
  • Junqua, Denise
  • Durcan, Fiona J
  • McCartney, Paul J
  • Mackey, David A
  • Sheffield, Val C
  • Stone, Edwin M

publication date

  • April 9, 1998