色素性播散综合征和色素性青光眼的遗传学。

The genetics of pigment dispersion syndrome and pigmentary glaucoma.

机构信息

NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.

出版信息

Surv Ophthalmol. 2013 Mar-Apr;58(2):164-75. doi: 10.1016/j.survophthal.2012.08.002. Epub 2012 Dec 6.

DOI:10.1016/j.survophthal.2012.08.002

PMID:23218808

Abstract

We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental--as well as anatomical--risk factors.

摘要

我们回顾了色素性播散综合征（PDS）和色素性青光眼（PG）研究中的遗传模式和最新进展。这两种情况可能是由一个以上基因突变的组合或许多基因中的常见变异引起的，每个基因的影响都很小。我们讨论了目前已知的与人类 PDS/PG 相关的遗传位点，动物模型在扩展我们对 PDS 遗传基础的理解中的作用，PDS 向 PG 转化的风险背后的遗传因素，以及遗传和环境因素以及解剖风险因素之间的关系。