How Eye Care Professionals Can Help

Eye care professionals can play a critical role in the detection of Fabry disease. Patients with Fabry disease often present with corneal opacities. By recognizing the early signs and symptoms, eye care professionals have the opportunity to identify Fabry disease earlier in the disease course. A geneticist can help establish a definitive diagnosis and provide information on interventions.

Corneal opacities

Distinctive corneal opacities 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 and can be a useful screening tool.

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.

Additional ocular findings

In addition to corneal opacities, patients with Fabry disease may present with:

  • Posterior capsular cataracts with whitish spoke-like deposits of granular material (Fabry cataract)
  • Aneurysmal dilatation of thin-walled venules on the bulbar conjunctiva
  • Mild-to-marked tortuosity and angulation of the retinal vessels

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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Other clinical manifestations

Patients with Fabry disease may present with comorbidities such as:

  • Progressive and/or unexplained chronic kidney disease. Learn more
  • Premature cardiac disease. Learn more
  • Premature stroke. Learn more
  • “Burning” pain in the hands and feet. Learn more
  • Heat/cold and exercise intolerance. Learn more
  • Hypohidrosis / Anhidrosis Learn more
  • Angiokeratomas (reddish-purple skin lesions that do not blanch with pressure). Learn more

Downloads

Ophthalmologists' Disease Sheet (PDF)

Ocular Manifestations of Lysosomal Storage Disorders Chart (PDF)

References:

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.