Bilateral isolated lens coloboma associated with bicuspid aortic valve

ABSTRACT A 27-year-old woman presented with a history of long-standing poor vision in both eyes. Ophthalmologic examination after pupillary dilatation revealed bilateral lens coloboma situated in the inferotemporal quadrant. No associated ocular abnormalities were seen, except amblyopia. A bicuspid aortic valve was observed during echocardiography during systemic evaluation. Lens coloboma usually occurs unilaterally; however, bilateral lens coloboma which is isolated or associated with other ocular malformations is also encountered. This is the first description of bilateral isolated lenticular coloboma associated with bicuspid aortic valve. Although the association between bicuspid aortic valve and lens coloboma may be an incidental finding, they may be components of an unknown syndrome.

摘要 一名27岁女性因双眼长期视力不佳就诊。散瞳后眼科检查显示，双侧晶状体缺损（lens coloboma）位于颞下象限。除弱视（amblyopia）外，未发现其他眼部异常。全身评估行超声心动图（echocardiography）检查时，发现其存在二叶主动脉瓣（bicuspid aortic valve）。晶状体缺损通常为单侧发病，但孤立性或合并其他眼部畸形的双侧晶状体缺损亦有报道。本例为首次报道合并二叶主动脉瓣的孤立性双侧晶状体缺损。尽管二叶主动脉瓣与晶状体缺损的关联可能为偶然发现，但二者也可能属于某一未知综合征的组成部分。