CYP1B1 Gene Mutation in Primary Congenital Glaucoma
Primary congenital glaucoma (PCG) is the most common childhood glaucoma affecting children from birth to age 3 years and is a major cause of blindness in this young population.
Mutations in the CYP1B1 gene, associated with GLC3 locus, have been found to cause PCG in children worldwide and are the dominant genetic cause for pediatric glaucoma in the Middle East and Central Europe. Our study in a small number of Indonesian and European PCG families supports the previous studies that reported mutations of the CYP1B1 gene being responsible for the PCG phenotype. A different pattern of CYP1B1 disease-causing mutations and benign variants appears to exist in Indonesian patients when compared to patients from other ethnic backgrounds.
Other genes such as LTBP2 and PXDN gene have been reported recently by several studies as being associated with pediatric glaucoma.
The exact mechanisms of how these gene abnormalities actually cause primary congenital glaucoma remain unclear. However, with the promising research progress so far, it is hoped that we will understand more about the pathogenesis of this disease and eventually potential new molecular targets to treat this threatening blindness disease in children will be developed in the near future.
KeywordsCYP1B1 Gene Mutation Children Primary congenital glaucoma
Table 27.1, Figs. 27.2 and 27.3, and some quotes  were reproduced from “CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.” Sitorus R, Ardjo SM, Lorenz B, Preising M, Journal of Medical Genetics 2003:40;e9, with permission from BMJ Publishing Group Ltd.
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- 1.Cascella R, Strafella C, Germani C, Novelli G, Ricci F, Zampatti S, et al. The Genetics and the Genomics of Primary Congenital Glaucoma [Internet]. BioMed Res Int. 2015 [cited 2017 Oct 18].Google Scholar
- 8.Stoilov IR, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. Fort Lauderdale: Association for Research in Vision and Ophthalmology; 2002.Google Scholar
- 12.Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet. 1998;62:573–84.CrossRefGoogle Scholar
- 22.Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, et al. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. Mol Vis. 2013;19:1707–22.PubMedPubMedCentralGoogle Scholar