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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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OPHTHALMIC GENETICS UPDATE
Year : 2011  |  Volume : 18  |  Issue : 1  |  Page : 7-16

Primary congenital glaucoma and the involvement of CYP1B1


1 Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Hyderabad, India
2 Jasti V Ramanamma Childrens Eye Care Center, Prof. Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Hyderabad, India

Correspondence Address:
Subhabrata Chakrabarti
Champalimaud Translational Centre, Prof. Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Banjara Hills, Hyderabad - 500 034
India
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Source of Support: Study was partially supported by a grant from the Champalimaud Foundation, Portugal and the Department of Biotechnology, Government of India, through a Program Support Grant (BT/01/ COE/06/02/10) to Dr. Subhabrata Chakrabarti,, Conflict of Interest: None


DOI: 10.4103/0974-9233.75878

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Primary congenital glaucoma (PCG) is an autosomal recessive disorder in children due to the abnormal development of the trabecular meshwork and the anterior chamber angle. With an onset at birth to early infancy, PCG is highly prevalent in inbred populations and consanguinity is strongly associated with the disease. Gene mapping of PCG-affected families has identified three chromosomal loci, GLC3A, GLC3B and GLC3C, of which, the CYP1B1 gene on GLC3A harbors mutations in PCG. The mutation spectra of CYP1B1 vary widely across different populations but are well structured based on geographic and haplotype backgrounds. Structural and functional studies on CYP1B1 have suggested its potential role in the development and onset of glaucomatous symptoms. A new locus (GLC3D) harboring the LTBP2 gene has been characterized in developmental glaucoma but its role in classical cases of PCG is yet to be understood. In this review, we provide insight into PCG pathogenesis and the potential role of CYP1B1 in the disease phenotype.


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