Küchle H J, Normann J, Lübbering I
Klin Monbl Augenheilkd. 1986 Mar;188(3):239-41. doi: 10.1055/s-2008-1050620.
Report on 2 cases of congenital cystic eye. In the first case the unilateral defect was the only malformation, without any chromosomal aberration. The second patient presented with a congenital cystic eye, on the right and a severe microphthalmos of the left eye, as well as several other malformations. Genetic investigations revealed a gross defect of a chromosome 13 (13q- deletion syndrome; so-called Orbeli syndrome).
先天性囊性眼2例报告。第一例中，单侧缺陷是唯一的畸形，无任何染色体畸变。第二例患者表现为右侧先天性囊性眼、左侧严重小眼畸形以及其他几种畸形。基因检测显示13号染色体存在明显缺陷（13q-缺失综合征；即所谓的奥比列综合征）。
