A patient with Fabry's disease may show a number of ocular findings.
Ocular changes seen in a patient with Fabry's disease:
(1) cornea verticillata (whorl-like opacities in the superficial layers of the cornea, seen more often in the inferior half of the cornea and which may be white, cream or golden in color)
(2) increased tortuosity of conjunctival blood vessels
(3) increased tortuosity of retinal blood vessels, with or without localized aneurysmal dilatations
(4) Fabry cataract (opacity of the posterior lens that radiates out with a spoke-like appearance)
The presence of cornea verticillata is sensitive and specific for Fabry's disease but can be seen with certain drugs (amiodarone, chloroquine). They may be reduced in a patient with Fabry's disease who is being treated with enzyme replacement.
Blood vessel tortuosity is not specific for Fabry's disease but it tends to become more pronounced with increasing systemic disease.
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