Kaur Kiranpreet, Mandal Anil K, Chakrabarti Subhabrata
Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Hyderabad, India.
Middle East Afr J Ophthalmol. 2011 Jan;18(1):7-16. doi: 10.4103/0974-9233.75878.
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.
原发性先天性青光眼（PCG）是一种儿童常染色体隐性疾病，由于小梁网和前房角发育异常所致。PCG在出生至婴儿早期发病，在近亲繁殖人群中高度流行，且近亲结婚与该病密切相关。对受PCG影响的家庭进行基因定位已确定了三个染色体位点，即GLC3A、GLC3B和GLC3C，其中GLC3A上的CYP1B1基因在PCG中存在突变。CYP1B1的突变谱在不同人群中差异很大，但基于地理和单倍型背景具有良好的结构。对CYP1B1的结构和功能研究表明其在青光眼症状的发生和发展中具有潜在作用。一个包含LTBP2基因的新位点（GLC3D）已在发育性青光眼中得到鉴定，但其在经典PCG病例中的作用尚待明确。在本综述中，我们深入探讨了PCG的发病机制以及CYP1B1在疾病表型中的潜在作用。
