Samant Monica, Chauhan Bharesh K, Lathrop Kira L, Nischal Ken K
Children's Eye Center of UPMC, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, 15213, USA.
Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
Expert Rev Ophthalmol. 2016;11(2):135-144. doi: 10.1586/17469899.2016.1152182. Epub 2016 Mar 9.
Congenital aniridia manifests as total or partial absence of the iris caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, and , have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated genes. Classic aniridia is a panocular condition, which includes aniridia, cataract, corneal pannus, foveal, and optic nerve hypoplasia associated with mutations in the PAX6 gene. Classical aniridia is due to mutations, while other genes contribute to aniridia-like phenotypes. We review the challenges involved in the management of aniridia, and discuss various surgical interventions. The clinical importance of defining the genotype in cases of congenital aniridia has become acutely apparent with the advent of possible therapies for classical aniridia, which are discussed.
先天性无虹膜表现为虹膜全部或部分缺失，最常见的原因是PAX6、FOXC1、PITX2和CYP1B1基因发生突变。最近，在个别研究中还发现了两个新基因， 和 ，也与该病有关。我们讨论了主要相关基因的基因型与表型的相关性。典型的先天性无虹膜是一种累及全眼的病症，包括无虹膜、白内障、角膜血管翳、黄斑和视神经发育不全，与PAX6基因的突变有关。典型的先天性无虹膜是由 突变引起的，而其他基因则导致类似无虹膜的表型。我们回顾了先天性无虹膜管理中涉及的挑战，并讨论了各种手术干预措施。随着针对典型先天性无虹膜的可能治疗方法的出现，确定先天性无虹膜病例基因型的临床重要性已变得极为明显，本文对此进行了讨论。
