CORNEAL FINDINGS IN ECTRODACTYLY ECTODERMAL DYSPLASIA CLEFTING SYNDROME: CASE REPORT AND LITERATURE REVIEW

Abstract

The purpose of this study was to report the ocular findings in an unusual case of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar cases in the literature. Thys study is an observational case report of a 13-year-old woman with complaints of epiphora and red eye. On examination she presented with lacrimal punctal agenesis and neovascularization in both eyes. She was treated medically and without any surgical intervention. Corneal changes in EEC can have variable presentation. The etiology of such keratopathy seems to be due to several factors and limbal stem cell deficiency (LSCD) being the most recent factor involved. Recurrent infection from lacrimal drainage obstruction and tear film instability are other risk factors for disease severity and progression. Since these patients present several anomalies, it is important, to follow an interdisciplinary approach to reduce complications and provide the best possible medical care.

Keywords

• Ectrodactyly-ectodermal dysplasia-clefting syndrome
• Lacrimal anomalies
• Blepharoconjunctivitis
• Keratopathy
• Limbal stem cell deficiency