EEC Syndrome

In the September 2023 edition of the journal Cornea, Lea Grauhan and colleagues published a case report of patients with ectrodactyly-ecotdermal dysplasia-cleft syndrome.

What the heck is that? It is a rare genetic disease that causes limbal stem cell deficiency. That prevents the cornea from functioning normally. Even though it is very rare, it is not so rare that we never see it. I have had at least one patient with the disease at every stage of my career.