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Pediatric genetic diseases causing glaucoma

机译:引起青光眼的小儿遗传疾病

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摘要

Glaucomatous optic neuropathy may be considered as an endpoint of multiple systemic factors. Genetic conditions commonly causing glaucoma in children and adolescents include Axenfeld-Reiger syndrome, aniridia, Marfan syndrome, Weill-Marchessani syndrome, Sturge-Weber syndrome, Rubinstein-Taybi syndrome, nevus of Ota, congenital rubella and neurofibromatosis type 1. In the recent years, with the advancements in genetic research our understanding of the fundamental causes of glaucoma associated with inherited disorders has improved. In addition to intraocular pressure reduction, it is important for the clinician to be familiar with the multiple systemic associations with glaucoma, to re-evaluate treatment frequently, and to target the underlying disease process, if present.
机译:青光眼性视神经病变可被视为多种系统性因素的终点。常见于儿童和青少年的青光眼遗传病包括Axenfeld-Reiger综合征,无虹膜,Marfan综合征,Weill-Marchessani综合征,Sturge-Weber综合征,Rubinstein-Taybi综合征,大田痣,先天性风疹和1型神经纤维瘤病。随着基因研究的发展,我们对与遗传性疾病相关的青光眼根本原因的理解得到了改善。除了降低眼内压之外,对于临床医生来说,熟悉与青光眼的多种系统关联,频繁地重新评估治疗并针对潜在的疾病过程(如果存在)也很重要。

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