刘静1，林顺潮1,2，王丹艺2，张铭志1，彭智培1,2
    汕头大学•香港中文大学联合汕头国际眼科中心1 515041
    香港中文大学 眼科及视觉科学学系2

    Glaucoma is a group of heterogeneous disorders characterized by optic disc cupping and a progressive visual field loss. It is a leading cause of visual impairment and blindness worldwide. Among the risk factors for glaucoma, a positive family history takes a significant role, suggesting that specific gene defects contribute to the pathogenesis of the disorder. It can be inherited as a Mendelian autosomal-dominant or autosomal-recessive trait, or as a complex multifactorial trait. Linkage analysis used in large affected pedigrees is the common approach to identify glaucoma genes, followed by case-control association study. To date, at least 22 genetic loci have been successfully mapped for primary open-angle glaucoma (POAG) whereas 2 loci for primary congenital glaucoma (PCG). Three POAG-causative genes have been identified from these loci: myocilin, optineurin, and WD repeat domain 36, which account for less than 10% of total POAG. On the other hand, CYP1B1 has been identified as a PCG-causative gene. Among different ethnic populations, disease-causative mutations may be different. Hence, the search for new glaucoma-causative genes and mutations is a requisite for the establishment of ethnic-specific databases with essential clinical and genetic information for diagnostic and prognostic purposes. Recently, use of single nucleotide polymorphism-based whole genome-association approaches provides an efficient way to identify genetic factors conferring susceptibility to complex diseases, and current studies focus on the application of these technologies to adult-onset POAG, which is inherited as a complex trait.

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