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Fabry Disease The Eyes

A "starburst" pattern on the cornea (the clear, front covering of the eye) is almost always present in people with Fabry disease. This pattern is sometimes called corneal whorling, and it is caused by GL-3 accumulation in the blood vessels of the eye. It does not affect vision and does not require any treatment. This symptom can only be seen during a special type of eye exam (slit-lamp) done by an ophthalmologist (eye doctor). Corneal whorling is found in almost all males with Fabry disease and in 70%-90% of female carriers.

Certain types of cataracts (cloudy areas in the lens of the eye) are also found in some people with Fabry disease. Abnormalities of the blood vessels of the conjunctiva and retina (other parts of the eye) can also be seen.

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