Clinical and molecular aspects of congenital aniridia - A review of current concepts.
Clinical and molecular aspects of congenital aniridia - A review of current concepts.
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先天性无虹膜的临床和分子方面--当前概念的回顾。
DOI：
10.4103/ijo.ijo_2255_21
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发表时间：
2022-07
影响因子：
3.1
通讯作者：
Vanita V
中科院分区：
文献类型：
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作者：
Tibrewal S;Ratna R;Gour A;Agarkar S;Dubey S;Ganesh S;Kekunnaya R;Sangwan V;Liu Y;Vanita V
先天性无虹膜是一种以虹膜组织部分或全部缺失为特征的全眼疾病。然而，典型的无虹膜有一系列的眼部表现，包括中心凹发育不全、视神经发育不全、眼球震颤、迟发性白内障、青光眼和角膜病。后三个是这些患者进一步视力受损的原因。这种实体通常是由于PAX 6（Paired box protein Pax-6）基因突变所致。最近，由于PITX 2、FOXC 1、FOXD 3、TRIM 44和CYP 1B 1中的非PAX 6突变，以及其中存在无虹膜重叠，如虹膜缺陷伴先天性青光眼或眼前节发育不全，已经报道了无虹膜样表型。在这篇综述中，我们描述了经典无虹膜的各种临床特征，合并症及其管理，涉及的基因的突变谱，PAX 6和非PAX 6突变的基因型-表型相关性，以及基因检测计划。各种系统的协会和他们的影响，在筛选和基因检测进行了讨论。最后，讨论了药物（如阿他仑）和靶向基因治疗形式的无虹膜治疗的未来进程。
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.
影响因子：
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作者：
Neethirajan G;Krishnadas SR;Vijayalakshmi P;Shashikant S;Sundaresan P
通讯作者：
Sundaresan P