Ophthalmological 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 recruited. The mean age of the hemizygous male patients was 37.7 years (range 18-57 years). The mean age of the heterozygous female patients was 34.6 years (range 1-78 years). Visual acuity was not affected. 97.1% of the hemizygotes and 78.1% of the heterozygotes had vascular abnormalities of the bulbar conjunctiva. Cornea verticillata was noted in 94.1% of the hemizygotes and 71.9% of the heterozygotes. 41.2% of the hemizygotes and 9.4% of the heterozygotes had anterior cataract formation. Posterior lens opacities were observed in 11.8% of the hemizygotes and none of the heterozygotes. Retinal vascular tortuosity was observed in 76.5% of the hemizygotes and 18.8% of the heterozygotes.

Conclusion: Conjunctival vascular tortuosity was the most common manifestation in this series. Conjunctival and retinal vessel tortuosity, and corneal verticillata are frequently observed in Fabry disease. The incidence of lenticular changes is not consistently reported, but in this series and many others, it is much less common than that of corneal, conjunctival and retinal changes.