Departamento de Segmento Anterior, Centro de Oftalmología Barraquer, Barcelona, Spain.
Hospital Universitario Severo Ochoa, Leganés, Madrid, Spain.
Arch Soc Esp Oftalmol (Engl Ed). 2021 Nov;96 Suppl 1:15-37. doi: 10.1016/j.oftale.2021.04.003. Epub 2021 Nov 9.
Congenital aniridia is a multisystemic genetic disease due to a mutation in PAX6 gene which severely affects the development and functionality of the human eyes. In patients affected by the mutation, aside from the absence or defects of iris tissue formation, abnormalities in position or opacities of the crystalline lens, macular hypoplasia, ocular surface disease is the main cause of visual loss and the deterioration of the quality of life of most patients. Limbal stem cell deficiency combined with tear film instability and secondary dry eye cause aniridic keratopathy which, in advanced stages, ends up in corneal opacification. In this paper, the actual knowledge about congenital aniridia keratopathy physiopathology and medical and surgical treatment options and their efficacy are discussed. Indications and results of topical treatments with artificial tears and blood-derivatives in its initial stages, and different surgical techniques as limbal stem cell transplantation, keratoplasty and keratoprostheses are reviewed. Finally, recent advances and results in regenerative medicine techniques with ex vivo stem cell cultivation or other types of cultivated cells are presented.
先天性无虹膜是一种多系统遗传性疾病，由于 PAX6 基因突变，严重影响了人类眼睛的发育和功能。在受突变影响的患者中，除了虹膜组织形成缺失或缺陷外，晶状体位置或混浊异常、黄斑发育不良、眼表疾病也是导致视力丧失和大多数患者生活质量恶化的主要原因。角膜营养不良伴有角膜缘干细胞缺乏和泪膜不稳定及继发性干眼，导致无虹膜性角膜病变，在晚期阶段，最终导致角膜混浊。本文讨论了先天性无虹膜性角膜病变的病理生理学以及医学和手术治疗选择及其疗效。在疾病的早期阶段，人工泪液和血液衍生物的局部治疗的适应证和结果，以及不同的手术技术，如角膜缘干细胞移植、角膜移植和角膜假体，都进行了回顾。最后，介绍了体外干细胞培养或其他类型培养细胞的再生医学技术的最新进展和结果。
