Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin

J Glaucoma. 2003 Feb;12(1):27-30. doi: 10.1097/00061198-200302000-00005.


Purpose: To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene.

Methods: All diagnoses were made by slit-lamp biomicroscopy, gonioscopy, cornea and optic disk measurements, ultrasound-biometry, and automated static threshold perimetry where possible. Mutation screening was performed by direct sequence analysis of DNA extracted from peripheral blood of the patients and their relatives.

Results: For the isolated case, a child of 4 years, a homozygous nucleotide deletion within a tetrad of cytosines (nt622-625, 622delC) was found leading to a predicted nonsense codon 93 truncating the protein by 450 amino acids. For the familial cases, the 3 affected members showed a homozygous mutation 1,546-1,555dupTCATGCCACC for which 9 healthy relatives proved to be heterozygous. The phenotypic expression of these 3 patients varied widely.

Conclusion: Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.

Publication types

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

MeSH terms

  • Aryl Hydrocarbon Hydroxylases / genetics*
  • Child
  • Child, Preschool
  • Codon, Nonsense / genetics
  • Consanguinity
  • Costa Rica / epidemiology
  • Cytochrome P-450 CYP1B1
  • DNA Mutational Analysis
  • Female
  • Gene Deletion*
  • Gene Duplication*
  • Glaucoma / congenital*
  • Glaucoma / ethnology
  • Glaucoma / genetics
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Turkey / epidemiology
  • Visual Fields


  • Codon, Nonsense
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1