M.B.: Recently, I was approached about testing for Avellino corneal dystrophy, a rare form of granular dystrophy, for our refractive surgical candidates. The company marketing this device cited a study that implies incidence is one in 870. While I am all for preventing a condition from progressing, I have reservations about looking for a mutation on the genome based on research that it may cause scarring in the future without any biomarkers.
Some surgical centers state that using this test will prevent blindness. And a prominent corneal specialist from Jules Stein Eye Institute added, “Avellino is the most common corneal dystrophy in Korea, where Fuchs is uncommon. The opposite is true in the U.S. As far as I know, there have not been any studies to determine the prevalence of Avellino corneal dystrophy in North America, but when you look at indications for corneal transplantation in the U.S., all of the TGFBI dystrophies account for less than 5% of the grafts. Thus, the incidence is far less than 1 in 870.”
This appears to be different than tests that use traditional markers and biomarkers for diagnosis. For example, one such test shows some promise in the early diagnose of Sjögrens syndrome. Having a foothold on patients who will progress in a condition that I can treat makes a huge impact on my practice.