Kaushik Sushmita, Singh Jyoti, Pandav Surinder Singh
Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Taiwan J Ophthalmol. 2023 Oct 16;13(4):425-433. doi: 10.4103/tjo.TJO-D-23-00064. eCollection 2023 Oct-Dec.
The basic pathophysiology of all childhood glaucoma results from impaired outflow through the trabecular meshwork. Anterior Segment Dysgeneses (ASD) are a group of nonacquired anomalies associated with secondary developmental glaucoma, characterized by impaired development of the structures of the anterior segment. Many genes impact the development of the anterior segment. The cause of the development of the abnormalities is thought to be multifactorial. Molecular research has helped our understanding of the molecular basis of ASD and the developmental mechanisms underlying these conditions. Identifying the genetic changes underlying ASD has gradually led to the recognition that some of these conditions may be parts of a disease spectrum rather than isolated anomalies. The characterization of the underlying genetic abnormalities responsible for glaucoma is the first step toward developing diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. It is also crucial for genetic counseling and risk stratification of later pregnancies. It also aids prenatal testing by various methods allowing for effective genetic counseling. This review summarizes various ocular and systemic conditions that result in secondary developmental glaucoma and provide an overview of the phenotypes, the diagnosis and principles of management of the various disorders.
所有儿童青光眼的基本病理生理学都源于小梁网房水流出受阻。前段发育异常(ASD)是一组与继发性发育性青光眼相关的非后天性异常,其特征是前段结构发育受损。许多基因影响前段的发育。异常发育的原因被认为是多因素的。分子研究有助于我们理解ASD的分子基础以及这些病症背后的发育机制。识别ASD背后的基因变化逐渐使人们认识到,其中一些病症可能是疾病谱的一部分,而不是孤立的异常。确定导致青光眼的潜在基因异常是开发诊断和筛查测试的第一步,这些测试可以在不可逆的视神经损伤发生之前识别出有患病风险的个体。这对于遗传咨询和后续妊娠的风险分层也至关重要。它还通过各种方法辅助产前检测,从而实现有效的遗传咨询。本综述总结了导致继发性发育性青光眼的各种眼部和全身病症,并概述了各种疾病的表型、诊断和管理原则。