Is there a genetic link between Keratoconus and Fuch’s endothelial corneal dystrophy?

Abstract

Keratoconus (KC) is a noninflammatory, bilateral, progressive corneal stromal thinning disorder that leads to corneal ectasia, central anterior corneal stromal scarring, irregular myopic astigmatism, and reduced visual acuity. Fuchs endothelial corneal dystrophy (FECD) is bilateral, sporadic, or autosomal dominant, non-inflammatory, dystrophy involving the corneal endothelium. As the dystrophy evolves, the major complaints include glare, halos, and reduced visual acuity. Very rarely, both the pathologies can co-exist in the same patient. After the initial report of KC with FECD, there have been nearly 70 cases of coexistence reported in the literature till now. The reported number of cases varies from region to region and the majority of cases have no documented family history, hence it is difficult to approximate the incidence and prevalence based on the available literature. Hence, we hypothesize that both pathologies have probably the same genetic link. Available literature supporting the hypothesis has been discussed. We have also discussed various probable mechanisms of coexistence and proposed a management algorithm while assessing and attempting surgery in these patients. We also propose that all these patients must undergo genetic screening and counselling to prevent the spread of these pathologies in future generations.