At a recent continuing education class, we learned about the visual signs of this disease, though patients may have 20/20 vision! Because symptoms often go unrecognized until adulthood when organ system damage has occurred, the optometrist can be the first doctor to make the connection!
Fabry disease is a metabolic disorder caused by a defect in the gene for a lysosomal enzyme. The defect results in an inability to catabolize certain lipids, resulting in a progressive accumulation of GL-3. By the third to fifth decade, more serious renal, cardiac, and cerebrovascular complications typically occur.
The disease usually presents in childhood with pain in the hands and feet, fever, hypohidrosis, fatigue, and exercise intolerance. However, symptoms often go unrecognized until adulthood when organ system damage has occurred. The cure is to take the required enzyme!
What I would look for in a patient is swirls in the cornea with the biomicroscope. The patient can have 20/20 vision even with these swirls. There were patients with Fabry's disease at the class that we could look at with the microscope. They also told us their amazing stories. Another sign would be to see a cherry red spot in the retina.
This was a most interesting class. Next we heard from the ophthalmologist and optometrist who work with the Red Sox! They started working with the ball players 5 years ago. Look how well the Red Sox have done! These players have 20/10 vision, and laser correction would not be good enough to help them. Often, they can be helped with a contact lens, even in one eye, or glasses for batting only to help them achieve that 20/10 vision. Another interesting lecture!