Opthalmological manifestations of Fabry disease: A survey of patients at the Royal Melbourne Fabry disease treatment centre

Abstract

Background: Fabry disease is a rare X-linked inborn error of glycosphingolipid metabolism. The aim of this study was to document the ophthalmological manifestations of patients attending the Royal Melbourne Hospital Fabry disease treatment centre. Methods: Patients at the treatment centre had full ophthalmological examination performed. This included best corrected visual acuity, ocular motility examination and examination of the adnexae. Patients also underwent slit-lamp examination looking for the presence of features of Fabry disease, particularly examining the bulbar conjunctiva, cornea, lens and fundus. Results: Thirty-four hemizygous male and 32 heterozygous female patients were recrui..