• The most characteristic manifestations are increased vessel tortuosity, venous vascular aneurysmal dilation and ‘sludging’ of blood in the small blood vessels, most commonly seen in the inferior bulbar conjunctiva.
• Abnormal storage of GL-3 induces degenerative changes in vessel walls that are responsible for weak mechanical resistance to blood pressure.

Conjunctival vessel tortuosity.
Reproduced with permission from Sodi A, et al. 2006.¹

• Corneal verticillata are common, consisting of bilateral whorl-like opacities in the superficial corneal layers. In the early stages, the opacities may form fine horizontal lines, but later develop into curving lines, radiating from a point below the centre of the cornea.
• Corneal verticillata have been described in almost all patients with Fabry disease and are therefore considered the most reliable marker of disease.
• Other causes of corneal verticillata include:
  • Use of medications such as amiodarone, chloroquine and hydroxychloroquine
  • Multiple myeloma
  • Neurotrophic keratitis
  • Lisch corneal dystrophy
  • Epidemic keratoconjunctivitis
  • Iron deposition
  • Stromal deposition

Corneal verticillata in a female patient with Fabry disease.
Reproduced with permission from Germain DP, et al. 2010.³

Two specific types of lens opacity have been reported in Fabry disease patients: anterior capsular or subcapsular cataract, and a radial posterior subcapsular cataract. Posterior subcapsular cataracts are rare but are very specific for the disease (and are hence termed ‘Fabry cataracts’).

Posterior subcapsular cataract (‘Fabry cataract’).
Reproduced with permission from Sodi A, et al. 2006.¹

• Mainly represented by increased tortuosity of the retinal vessels associated with venous dilation and arteriolar narrowing.

Retinal vessel tortuosity.
Reproduced with permission from Sodi A, et al. 2006.¹