Traboulsi E I, Jurdi-Nuwayhid F, Torbey N S, Frangieh G T
Ophthalmic Paediatr Genet. 1986 Aug;7(2):131-5. doi: 10.3109/13816818609076122.
A two-month-old girl with aniridia was found to have an optic pit in one eye and the morning glory disc anomaly in the other eye. The patient's mother had corectopia and atypical iris defects. The findings are described and the embryology of the various abnormalities briefly reviewed. This is the first report of such an association of findings in a family with aniridia. Failure of normal neuroectodermal development may play a role in the development of optic pits and the morning glory disc anomaly.
一名两个月大患有无虹膜症的女婴，被发现一只眼睛有视盘小凹，另一只眼睛有牵牛花综合征视盘异常。患儿母亲有瞳孔异位和非典型虹膜缺损。本文描述了这些发现，并简要回顾了各种异常的胚胎学。这是首次报道在一个有无虹膜症的家族中出现此类联合发现。正常神经外胚层发育失败可能在视盘小凹和牵牛花综合征视盘异常的发生中起作用。
