Imerslund-Gräsbeck syndrome with developmental cataract

Abstract

An 18-year-old girl was referred to the ophthalmology department with diminution of vision in both eyes of 1-year duration. Imerslund-Gräsbeck syndrome was diagnosed. On examination, anterior polar cataract and posterior subcapsular opacification were present in the right eye and posterior subcapsular opacification was present in the left eye. The rest of the anterior segment was unremarkable in both eyes. Congenital and other systemic associations were ruled out for the lenticular opacity. In the Imerslund-Gräsbeck syndrome, cobalamin deficiency is associated with proteinuria. Low vitamin B12 levels result in high plasma homocysteine levels, which is a potential biomarker of oxidative damage and cataractogenic stressor. Screening and regular follow-up of these cases can result in early detection of cataract and improvement of the visual acuity.