Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

J AAPOS. 2011 Apr;15(2):198-9. doi: 10.1016/j.jaapos.2011.01.156.

Abstract

We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family. The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antihypertensive Agents / therapeutic use
  • Aryl Hydrocarbon Hydroxylases / genetics*
  • Carrier State
  • Child
  • Consanguinity
  • Cytochrome P-450 CYP1B1
  • Cytoskeletal Proteins / genetics
  • Eye Proteins / genetics
  • Female
  • Glaucoma, Open-Angle / drug therapy
  • Glaucoma, Open-Angle / genetics*
  • Glycoproteins / genetics
  • Gonioscopy
  • Homozygote
  • Humans
  • Intraocular Pressure / physiology
  • Male
  • Mutation*
  • Pedigree
  • Siblings
  • Timolol / therapeutic use
  • Visual Acuity / physiology

Substances

  • Antihypertensive Agents
  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein
  • Timolol
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1