5.1. Clinical Presentations of Fabry Disease: Eyes


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Another finding is abnormalities in the cornea of the eye, which are referred to as corneal whorls. The challenge is that you can’t see them using routine physical examination. You need a slit lamp to do that, so pediatric ophthalmologists or adult ophthalmologists will be able to detect those. They are a valuable diagnostic tool, but they don’t actually interfere with vision very much. The picture above shows abnormal blood vessels on the sclera of the eye, but you can also get that in the retina. Those abnormal blood vessels don’t directly interfere with vision but they are an important finding. If the storage in the blood vessels results in a clusion of the blood vessel, you see death of the surrounding tissues in your retina, which is the part of the eye which gathers light and interprets vision, so you’ll get partial blindness.

 

 

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