Ophthalmic Manifestations in Fabry Disease: Updated Review

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology.

Keywords: Fabry disease; cornea verticillata; focal electroretinography; foveal avascular zone; hyper-reflective foci; vascular tortuosity; vortex keratopathy.

Figure 1

Picture of a typical form of cornea verticillate in a patient affected.

Figure 2

Picture of a typical form of cataract in a patient affected.

Figure 3

Posterior pole retinography (A) and OCTA (B) image of a Fabry disease patient, highlighting marked vascular tortuosity. OCTA image is segmented at the SVP, making FAZ clearly visible. OCTA = optical coherence tomography angiography, SVP = superficial vascular plexus, FAZ = foveal avascular zone.