Ocular Findings

Lipid deposition within the eyes of Fabry disease patients results in common ophthalmologic findings, which typically do not affect vision and may be pathognomonic for Fabry disease. These include vascular lesions, lenticular opacities, and characteristic whorled corneal opacities.

Corneal opacities

Corneal opacities, beginning with a diffuse haziness and progressing to a characteristic “whorled” or “spoke-like” pattern, are found almost universally among classically affected hemizygotes and in a high proportion of heterozygous females (estimated to be approximately 70%).1 Corneal opacities typically do not impair vision.2 This finding can be visualized through slit lamp microscopy.

Corneal opacity in Fabry disease

corneal opacity in Fabry disease is denoted by whorl-like rays eminating from a single vertex like the spokes of a wheel

Distinctive corneal opacity (corneal verticillata or vortex keratopathy) in Fabry disease. Note the whorl-like corneal rays emanating from a single vertex like the spokes of a wheel. Used with permission from RL Abbott, MD.

Lenticular opacities

Two types of lens opacities have been noted in Fabry disease patients: anterior capsular deposits in the lens (sometimes distributed like a propeller), and whitish, granular spoke-like deposits on the posterior lens (referred to as Fabry cataracts). Fabry cataracts are more commonly observed than capsular deposits; they can be visualized by retroillumination.2

Vascular lesions

Conjunctival and retinal vascular lesions are common as a result of the Fabry disease process.1

Conjunctival involvement in Fabry disease

 Magnified image of dilated vessels on eye surface

Note the sausage-like and markedly dilated vessels. Used with permission from R.J. Desnick, MD, Phd.

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1. Desnick RJ, YA Ioannou, CM Eng. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774.

2. Sher NA, RD Letson, RJ Desnick. The ocular manifestations in Fabry's disease. Arch Ophthalmol. 1979;97:671-676.

3. Mehta A., Clarke J.T.R., Giugliani R., Elliott P., Linhart A., Beck M., Sunder-Plassmann G. Natural course of Fabry disease: Changing pattern of causes of death in FOS - Fabry Outcome Survey. Journal of Medical Genetics 2009 46:8 (548-552)