Mayer Kristine L, Nordlund Michael L, Schwartz Gary S, Holland Edward J
Department of Ophthalmology, University of Cincinnati, Cornea Service, Cincinnati Eye Institute, Cincinnati, OH 45242, USA.
Ocul Surf. 2003 Apr;1(2):74-9. doi: 10.1016/s1542-0124(12)70130-1.
Although the most apparent clinical finding in aniridia is the absence of iris tissue, additional ocular structures are often affected. Mutations of the Pax 6 gene, which is important for eye development, have been identified in families with members affected by aniridia. Poor vision in aniridic eyes may be the result of macular hypoplasia, nystagmus, amblyopia, cataracts, glaucoma, and corneal disease, termed aniridic keratopathy. Advances in surgical techniques have improved management of some of the visually disabling manifestations of aniridia, but aniridic keratopathy remains a significant source of visual loss. We have conducted a large, retrospective study of patients with aniridia to gain information about the natural course of aniridic keratopathy. In this paper, we report the results of our study, as well as findings reported in the literature. Penetrating keratoplasty alone has not been a successful treatment for severe stromal scarring, as it does not treat the underlying epithelial causes of corneal disease. However, it has been successful in corneas that have achieved stable epithelium following limbal stem cell transplantation.
尽管无虹膜最明显的临床特征是虹膜组织缺失，但其他眼部结构也常受影响。在患有无虹膜症的家族中，已发现对眼睛发育至关重要的Pax 6基因突变。无虹膜症患者视力不佳可能是黄斑发育不全、眼球震颤、弱视、白内障、青光眼和角膜疾病（称为无虹膜性角膜病变）所致。手术技术的进步改善了对无虹膜症一些导致视力障碍表现的治疗，但无虹膜性角膜病变仍是视力丧失的重要原因。我们对无虹膜症患者进行了一项大型回顾性研究，以获取有关无虹膜性角膜病变自然病程的信息。在本文中，我们报告了研究结果以及文献中报道的发现。单纯穿透性角膜移植术对严重基质瘢痕形成并非成功的治疗方法，因为它无法治疗角膜疾病的潜在上皮病因。然而，在角膜缘干细胞移植后上皮已稳定的角膜中，该方法已取得成功。
