Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
Exp Eye Res. 2011 Oct;93(4):331-9. doi: 10.1016/j.exer.2011.08.007. Epub 2011 Aug 18.
Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle-closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to glaucoma phenotypes. This review examines the current status of genetic investigations of POAG, ACG, XFG, including the less common forms of glaucoma primary congenital glaucoma (PCG), the developmental glaucomas, and pigment dispersion glaucoma.
青光眼是一组疾病，其病理学定义为视网膜神经节细胞的进行性丧失。临床上，青光眼表现为特征性视神经病变，并伴有视野缺失。原发性开角型青光眼（POAG）、慢性闭角型青光眼（ACG）和剥脱性青光眼（XFG）是全球最常见的青光眼类型，也是全球青光眼致盲的最常见原因。大量遗传和环境因素导致青光眼表型。本综述探讨了 POAG、ACG、XFG 的遗传研究现状，包括不太常见的青光眼类型原发性先天性青光眼（PCG）、发育性青光眼和色素播散性青光眼。
