Corneal decompensation in recessive cornea plana.

PURPOSE To report corneal decompensation in 3 patients with recessive cornea plana. METHODS Retrospective case series. RESULTS An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). CONCLUSIONS The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.