A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2

A negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations. Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation.