Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Dr. Shroffs Charity Eye Hospital, Daryaganj, New Delhi, India.
Indian J Ophthalmol. 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21.
Childhood glaucoma is a treatable cause of blindness, provided it is recognized, diagnosed, and treated in time. WHO has estimated that it is responsible for Blind Years second only to cataracts. The fundamental pathophysiology of all childhood glaucoma is impaired outflow through the trabecular meshwork. Anterior segment Dysgeneses (ASD) are a group of non-acquired ocular anomalies associated with glaucoma, characterized by developmental abnormalities of the tissues of the anterior segment. The cause is multifactorial, and many genes are involved in the development of the anterior segment. Over the last decade, molecular and developmental genetic research has transformed 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. The characterization of genes responsible for glaucoma is the critical 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 pre-natal testing by various methods allowing for effective genetic counseling. This review will summarize the known genetic variants associated with phenotypes of ASD and the possible significance and utility of genetic testing in the clinic.
儿童青光眼是一种可治疗的致盲原因，如果能及时识别、诊断和治疗。世界卫生组织估计，它是仅次于白内障的导致盲年的第二大原因。所有儿童青光眼的基本病理生理学都是小梁网流出受阻。前节发育不良（ASD）是一组与青光眼相关的非获得性眼部异常，其特征是前节组织的发育异常。其病因是多因素的，许多基因参与了前节的发育。在过去的十年中，分子和发育遗传学研究改变了我们对 ASD 的分子基础以及这些疾病潜在的发育机制的理解。确定 ASD 潜在的遗传变化逐渐导致人们认识到，其中一些情况可能是疾病谱的一部分。确定导致青光眼的基因变化是开发诊断和筛查测试的关键第一步，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。这对于遗传咨询和以后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，从而进行有效的遗传咨询。这篇综述将总结与 ASD 表型相关的已知遗传变异，以及遗传检测在临床上的可能意义和用途。
