Keratopathy in a Family with the Ectrodactyly-Ectodermal Dysplasia-clefting Syndrome

Abstract

Four members of a family with the ectrodactyly-ectodermal dysplasiaclefting (EEC) syndrome and associated keratopathy are presented. The main features of this syndrome include lobster-claw deformities of the hands and feet, abnormalities of the hair and teeth, cleft lip and palate, nasolacrimal abnormalities, and a progressive keratopathy ranging in severity from an asymptomatic pannus to bilateral dense corneal scarring and neovascularization. Despite congenital limb abnormalities, the major functional disability of three of these patients stems from severe photophobia and decreased visual acuity secondary to the corneal disease. Treatment with cycloplegics, topical steroids, and bandage soft contact lenses was unsuccessful. The EEC syndrome is transmitted in an autosomal dominant manner. The spectrum of keratopathy demonstrated in this family can be explained by the different ages of the patients, by variation in gene penetrance and expressivity and by differing durations and severity of dacryocystitis and related keratoconjunctivitis. The etiology of the keratopathy appears to be primarily a manifestation of the underlying ectodermal dysplasia with probable contributions from associated tearfilm abnormalities and external ocular infection.