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.
Highlights
Coloboma is an embryological eye abnormality caused by ocular developmental defects occurring during 5th to 7th weeks of gestation[1]
Bicuspid aortic valve is commonly observed as an isolated finding, it may be associated with other cardiovascular anomalies such as aortic coarctation, Shone complex, Williams syndrome, patent ductus arteriosus, supravalvular/subvalvular aortic stenosis, Turner syndrome, and coronary artery anomalies[3]
The eye develops from three embryological layers, including the neural ectoderm, neural crest, and the surface ectoderm
Summary
Coloboma is an embryological eye abnormality caused by ocular developmental defects occurring during 5th to 7th weeks of gestation[1]. Bicuspid aortic valve is an inheritable condition representing one of the most common cardiac anomalies. Bicuspid aortic valve is commonly observed as an isolated finding, it may be associated with other cardiovascular anomalies such as aortic coarctation, Shone complex, Williams syndrome, patent ductus arteriosus, supravalvular/subvalvular aortic stenosis, Turner syndrome, and coronary artery anomalies[3]. Several cases of sporadic unilateral or bilateral lens coloboma with and without systemic abnormalities have been described[4]. As far as we know, bilateral isolated lens coloboma associated with cardiovascular anomalies has not been reported before. We report a case of bilateral isolated lens coloboma and associated bi cuspid aortic valve
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