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.

Implantable Collamer Lens Subluxation in a Patient with Lenticular Coloboma: A Case Report

“…Although lens colobomas are usually sporadic, some are inherited in an autosomal-recessive, autosomal-dominant, or x-linked pattern. They may be accompanied by a systemic disorder or other ocular manifestations [ 6 , 7 ]. Among the ocular manifestations linked to lens coloboma are optic disc colobomas or hypoplasia, retinal detachment, and a variety of cataracts [ 7 ].…”

“…They may be accompanied by a systemic disorder or other ocular manifestations [ 6 , 7 ]. Among the ocular manifestations linked to lens coloboma are optic disc colobomas or hypoplasia, retinal detachment, and a variety of cataracts [ 7 ]. Also, lens subluxation has been reported with colobomas of the lens, as they involve the zonules [ 8 ].…”

“…Regarding systemic manifestations, lens colobomas have been reported with coexisting facial dysmorphism as well as in systemic disorders including Marfan syndrome and Alport-like glomerulonephritis. There has also been 1 reported case with an isolated bicuspid valve [ 7 ]. Additionally, lens colobomas have also been reported without any systemic manifestations [ 5 , 7 , 8 ].…”

“…There has also been 1 reported case with an isolated bicuspid valve [ 7 ]. Additionally, lens colobomas have also been reported without any systemic manifestations [ 5 , 7 , 8 ]. We report a case of unilateral lenticular coloboma without cataract in a patient with a Marfanoid body habitus who underwent implantable collamer lens (ICL, Staar Surgical AG, Nidau, Switzerland) implantation followed by a postoperative complication of ICL subluxation.…”