Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy: a case series.

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The aim was to report 4 cases of Fuchs endothelial corneal dystrophy (FECD ) in patients with an established diagnosis of myotonic dystrophy (DM ) and suggest a mechanism for their association based on the known molecular genetics and potential pathophysiological parallels of DM and FECD .We reviewed all available medical records and pathology slides for the 4 reported cases from the Department of Ophthalmology at Oregon Health and Science University 's Casey Eye Institute and Devers Eye Institute at the Legacy Good Samaritan Medical Center in Portland , OR .Four patients were found to have DM and bilateral corneal guttae , consistent with the diagnosis of FECD . All the identified patients were female and were aged between 34 and 63 , and 2 patients were related (mother and daughter ). The corneal specimens from 2 of the 4 patients who had undergone a corneal transplant were pathologically confirmed to be consistent with the diagnosis of FECD .To our knowledge , FECD has not been previously reported in association with DM . Because both diseases are somewhat prevalent in the United States , it is possible that their coexistence is merely a coincidence in these patients . However , recent studies into the pathogenesis of each disease have shown more parallels between FECD and DM , suggesting the possibility of a noncoincidental association . Potential mutual pathogenic mechanisms may involve altered protein expression causing the deregulation of ion homeostasis , an unstable intronic trinucleotide repeat expansion , or activation of the unfolded protein response and oxidative stress pathways .