Department of Ophthalmology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Department of Clinical Genetics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Eur J Med Genet. 2022 Jan;65(1):104378. doi: 10.1016/j.ejmg.2021.104378. Epub 2021 Nov 5.
Primary congenital glaucoma is an important cause of visual impairment in children. It can develop both pre- and postnatally. Angle surgery is the first line treatment modality. If the disease remains untreated or if the diagnosis is delayed, it can lead to irreversible visual loss and blindness. The genetics of primary congenital glaucoma are complex and not yet entirely understood. At present multiple disease-causing genes have been identified. CYP1B1 is the most well known gene causing autosomal recessive congenital glaucoma. Other genes have been found to play a role through recessive, dominant or polygenic mechanisms. Here we provide an overview of the known genes and mechanisms described in patients with PCG. Furthermore, we provide a practical counseling and follow-up guideline for relatives of a proband.
原发性先天性青光眼是儿童视力损害的一个重要原因。它可以在产前和产后发展。角手术是一线治疗方式。如果疾病得不到治疗，或者诊断被延误，它可能导致不可逆转的视力丧失和失明。原发性先天性青光眼的遗传学很复杂，目前还不完全清楚。目前已经确定了多个致病基因。CYP1B1 是最著名的导致常染色体隐性先天性青光眼的基因。其他基因通过隐性、显性或多基因机制被发现也起作用。在这里，我们提供了一个已知基因和机制的概述，这些基因和机制在 PCG 患者中得到了描述。此外，我们还为先证者的亲属提供了一个实用的咨询和随访指南。
