Bilateral lens ectopia in the context of a consanguineous marriage

Abstract

Ectopic lens is a congenital displacement of the lens, due to an abnomality of the zonule. It is a primary congenital malformation most often within the framework of a polymalformative syndrome (Marfan syndrome, homocystinuria, Weill Marchesani syndrome). It is rare but can be responsible for major organic and functional complications. We report the case of a 8-year-old girl from a well-monitored pregnancy carried to term in the context of first-degree consanguinity. General examination was normal except for long fingers. On the ophthalmological examination we find a visual acuity of 1/10 on the right and count the fingers on the left, a good photomotor reflex in both eyes, the examination of the anterior segment shows a clear cornea with an anterior chamber of good depth and bilateral lens ectopia in inferotemporal on the right and superotemporal on the left. The fundus was normal. An etiological assessment was requested including a pediatric opinion, a cardiovascular examination, and a cardiac ultrasound which did not note any mitral valve prolapse or aortic aneurysm. Urine amino acid electrophoresis for homocystinuria was negative. The patient underwent surgical treatment by phacoemulsification in both eyes with correction of the aphakia by glasses and followed by strabology consultation in order to prevent possible amblyopia.