CYP1B1 Gene Mutation in Primary Congenital Glaucoma

  • Rita S. Sitorus
Part of the Essentials in Ophthalmology book series (ESSENTIALS)


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.


CYP1B1 Gene Mutation Children Primary congenital glaucoma 



Table 27.1, Figs. 27.2 and 27.3, and some quotes [11] 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.

Compliance with Ethical Standards

The author declares that this manuscript is written in accordance with the ethical standards and comply with the ethical requirements.

In this manuscript, permission from the copyright holder (BMJ Publishing Group Ltd.) has been taken for the excerpts from copyrighted works such as illustrations, tables, animations, or text quotations included.


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Rita S. Sitorus
    • 1
  1. 1.Department of OphthalmologyFaculty of Medicine Universitas Indonesia, Cipto Mangunkusumo HospitalJakartaIndonesia

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