Abstract：
Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of PAX6 and non-PAX6 mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.
摘要：
先天性无虹膜是一种以虹膜组织部分或全部丧失为特征的泛眼部疾病。经典无虹膜,然而,有一系列的眼部发现，包括中央凹发育不全,视神经发育不全,眼球震颤,晚发性白内障，青光眼,和角膜病变。后三者是此类患者进一步视力受损的原因。该实体通常是由于PAX6(配对盒蛋白Pax-6)基因中的突变。最近,据报道，由于PITX2、FOXC1、FOXD3、TRIM44和CYP1B1中的非PAX6突变，无虹膜样表型也有重叠，如先天性青光眼虹膜缺损或眼前节发育不全。在这次审查中,我们描述了经典无虹膜的各种临床特征，合并症及其管理，所涉及的基因的突变谱，PAX6和非PAX6突变的基因型-表型相关性，和基因检测计划.已经讨论了各种系统性关联及其在筛查和基因检测中的意义。最后,已经讨论了药物（例如ataluren）和靶向基因治疗形式的无虹膜治疗的未来过程。
