Investigation of ocular involvement in patients with Fabry disease

To investigate ocular abnormalities in Fabry disease (FD).

Forty-five patients with FD diagnosed by genetic analysis were enrolled in a single medical centre. The following ocular examinations were performed: slit-lamp examination, ophthalmic fundus imaging, in vivo confocal microscopy (IVCM) and optical coherence tomography (OCT). The prevalences of typical abnormalities in the cornea, conjunctiva and retina were recorded; their differences between hemizygote and heterozygote were compared.

In this study, the prevalence of corneal verticillata was 97.8% (44/45). Corneal examination with IVCM demonstrated hyper-reflective intracellular inclusions located within basal epithelial cells. Conjunctival vessel malformations were observed in 64.4% (29/45) of patients, and retinal vessel tortuosity was observed in 62.2% (28/45) of patients. OCT revealed many strong hyper-reflective foci (HRF) in the inner retinal layer (in 66.7% [30/45] of patients); these foci may represent retinal vascular plexi. The prevalences of conjunctival vessel malformation, retinal vessel tortuosity and HRF were higher in hemizygote than in heterozygote.

Corneal verticillata, HRF on OCT, conjunctival vessel malformation and retinal vessel tortuosity exhibit high prevalence in patients with FD. These ocular manifestations are characteristic and easily accessible; thus, they should be considered diagnostic criteria for FD.