Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis. While some genes are strongly associated with a specific clinical diagnosis, the majority of known factors are linked with highly variable phenotypic presentations, with pathogenic variants in and associated with the broadest spectrum of ASD conditions. This review discusses typical clinical presentations including associated systemic features of various forms of ASD; the latest functional data and genotype-phenotype correlations related to 25 ASD factors including newly identified genes; promising novel candidates; and current and emerging treatments for these complex conditions. Recent developments of interest in the genetics of ASD include identification of phenotypic expansions for several factors, discovery of multiple modes of inheritance for some genes, and novel mechanisms including a growing number of non-coding variants and alleles affecting specific domains/residues and requiring further studies.

中文翻译：

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先天性眼前节眼部疾病：基因型-表型相关性和新兴机制


眼前节的发育需要新生组织之间的相互顺序相互作用，这由许多遗传因素促进。这些过程中的任何一个的破坏都会导致受影响组织出现先天性异常，从而导致眼前段疾病 (ASD)，包括无虹膜、Axenfeld-Rieger 异常、先天性角膜混浊（Peters 异常、角膜平坦、先天性原发性无晶状体）和原发性角膜混浊。先天性青光眼。目前对 ASD 相关遗传因素的了解仍然不完整，大约 50% 的人接受了基因诊断。虽然一些基因与特定的临床诊断密切相关，但大多数已知因素与高度可变的表型表现有关，其中致病性变异与最广泛的 ASD 病症相关。这篇综述讨论了典型的临床表现，包括各种形式的 ASD 的相关系统特征；与 25 个 ASD 因素（包括新发现的基因）相关的最新功能数据和基因型-表型相关性；有前途的新候选人；以及针对这些复杂病症的当前和新兴治疗方法。自闭症谱系障碍遗传学的最新发展包括几个因素的表型扩展的鉴定、某些基因的多种遗传模式的发现以及新的机制，包括越来越多的非编码变异和等位基因影响特定的域/残基并需要进一步的研究。研究。