Hamming N, Wilensky J
Am J Ophthalmol. 1978 Jul;86(1):118-20. doi: 10.1016/0002-9394(78)90027-2.
Familial aniridia is an autosomal dominant condition in which only a small iris remnant is present. A controversy exists as to whether the pathogenetic, embryologic origin of this condition is neuroectodermal or mesodermal. We examined a male infant with bilateral congenital aniridia associated with persistent pupillary membranes. This child had a prominent arcade of vessels extending onto the anterior lens surface for 360 degrees from small iris remnants in both eyes. The presence of a mesodermal pupillary membrane despite absence of the iris suggested a primary neuroectodermal defect as the pathogenetic factor in this case of aniridia.
家族性无虹膜是一种常染色体显性疾病，仅有一小部分虹膜残留。关于这种疾病的致病胚胎起源是神经外胚层还是中胚层存在争议。我们检查了一名患有双侧先天性无虹膜并伴有持续性瞳孔膜的男婴。这名儿童有明显的血管弓，从双眼的小虹膜残留处向晶状体前表面呈360度延伸。尽管没有虹膜，但存在中胚层来源的瞳孔膜，这表明在该例无虹膜病例中，原发性神经外胚层缺陷是致病因素。
