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原发性开角型青光眼的基因干预前景

Prospects for genetic intervention in primary open-angle glaucoma.

作者信息

Wirtz M K, Acott T S, Samples J R, Morrison J C

机构信息

Ophthalmology Department, Casey Eye Institute, Oregon Health Sciences University, Portland, USA.

出版信息

Drugs Aging. 1998 Nov;13(5):333-40. doi: 10.2165/00002512-199813050-00001.

Abstract

Recent advances in glaucoma genetics hold potential for dramatically changing the clinical care of glaucoma patients. To date, 5 primary open-angle glaucoma genes and 2 congenital glaucoma genes have been mapped. As more glaucoma genes are identified, earlier diagnosis for glaucoma should become more readily available. Progress in molecular genetics holds considerable promise for both current and future therapy of glaucoma. Glaucoma classification will be tailored to each individual based upon that person's family history, i.e. family glaucoma genotype. In the future, the optimum treatment for a specific glaucoma patient might rely on the knowledge of the phenotype of that person's causal gene, without having to resort to 'trial and error'. At this time, glaucoma treatment is restricted to lowering intraocular pressure. In the near future, with the knowledge of the pathophysiology caused by the defective glaucoma gene, more traditional drug treatments may be used to bypass the gene defect. Ultimately, gene therapy would replace the mutant gene with a normal one before visual loss has occurred as has been done with a model for retinitis pigmentosa, the retinal degeneration mouse.

摘要

青光眼遗传学的最新进展有可能极大地改变青光眼患者的临床护理。迄今为止,已定位了5个原发性开角型青光眼基因和2个先天性青光眼基因。随着更多青光眼基因被识别出来,青光眼的早期诊断应该会更容易实现。分子遗传学的进展为青光眼的当前和未来治疗带来了巨大希望。青光眼的分类将根据个人的家族病史,即家族青光眼基因型,为每个人量身定制。未来,特定青光眼患者的最佳治疗方法可能依赖于对其致病基因表型的了解,而无需诉诸“试错”法。目前,青光眼治疗仅限于降低眼压。在不久的将来,随着对由缺陷性青光眼基因引起的病理生理学的了解,可能会使用更多传统药物治疗来绕过基因缺陷。最终,基因治疗将在视力丧失发生之前用正常基因取代突变基因,就像在视网膜色素变性模型——视网膜变性小鼠中所做的那样。

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