Angius A, Pisano M, Sanca A, Casu G, Persico I, Pitzalis S, De Gioia E, Grignolo F M, Loi A, Sole G, Cao A, Spinelli P, Ghillotti G, Bonomi L, Fossarello M, Serra A, Gandolfi S, Alberti G, Maraini G, Serru A, Orzalesi N, Pirastu M
CNR Molecular Genetics Institute, Alghero.
Acta Ophthalmol Scand Suppl. 1998(227):16-7. doi: 10.1111/j.1600-0420.1998.tb00865.x.
Glaucoma is a group of ocular diseases characterized by an optic neuropathy in which degeneration of retinal ganglion cells leads to a characteristic excavation of the optic nerve head. Primary open-angle glaucoma (POAG) can be subdivided into two groups according to age of onset:- 1. the more common middle- to late-age onset, chronic open-angle glaucoma (COAG) diagnosed after the age of 40 years; 2. the rarer juvenile open-angle glaucoma (JOAG), which is diagnosed between the age of 3 years and early adulthood. Recently, the gene coding for the trabecular meshwork-induced glucocorticoid response protein (TIGR), located in chromosome 1 (1q23-25), was found mutated in patients affected by POAG. In this work we describe the clinical and molecular genetic features of several Italian families affected by autosomal dominant POAG, collected in various regions of Italy.
青光眼是一组以视神经病变为特征的眼部疾病，其中视网膜神经节细胞的退化导致视神经乳头出现特征性凹陷。原发性开角型青光眼（POAG）可根据发病年龄分为两组：1. 较常见的中老年发病的慢性开角型青光眼（COAG），在40岁以后确诊；2. 较罕见的青少年开角型青光眼（JOAG），在3岁至成年早期确诊。最近，位于1号染色体（1q23 - 25）上的小梁网诱导糖皮质激素反应蛋白（TIGR）的编码基因在POAG患者中被发现发生了突变。在这项工作中，我们描述了在意大利不同地区收集的几个常染色体显性POAG意大利家族的临床和分子遗传学特征。
