2.6h. Neurological phenotypes


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This is what they look like. This is cataract, so the lense is opaque but not the rest of the eye, as opposed to the corneal clouding which is a cloudy haziness all over the eye not just the lens. Third are the corneal whorls, like these bifurcation within the eye. They are pathognomonic to Fabry Disease, a lot of Fabry patients are referred by their ophthalmologist because they saw these whorls and they knew that the patient had Fabry. This is pathognomonic for Fabry Disease, and Fabry patients can also have these tortuous retinal vessels as well.

 

 

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