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Ocular manifestations in EEC syndrome (ectrodactyly ectodermal dysplasia cleft lip palate)

Poster Details

First Author: B.Borges PORTUGAL

Co Author(s):    R. Anjos   A. Vicente   V. Lemos   L. Pinto   J. Lisboa  

Abstract Details


The EEC syndrome is a rare congenital anomaly, inherited as an autosomal dominant trait of low penetrance and variable expression. It is characterized by the absence of one or more fingers or toes or split hand-split-foot deformity, cleft lip and/or palate and anatomic and functional abnormalities of ectodermal derivatives, such as hair, nails, teeth, and sweat glands, as well as genitourinary malformations and eyes abnormalities (meibomian glands and tear ducts abnormalities and corneal changes). The purpose of this poster is to describe a case of a pacient with EEC syndrome and its ocular manifestations.


: Cornea Department - Centro Hospitalar Lisboa Central


The authors describe the case of a 34-year-old male, born with ectrodactily of both hands and feet, cleft lip and palate, sparse hair and hypodontia. He was referred to the Cornea Department in 1997 due to changes of ocular surface with a significant decrease of visual acuity. His best-corrected visual acuity was 3/10 in the right eye and 1/10 in the left eye. He presented abnormalities of the lacrimal system (all four lacrimal puncta were occluded), and meibomian gland defects. The right eye showed corneal vascularized pannus and leucoma superiorly and of the left eye showed entire corneal pannus.


He was subjected to multiple symblepharon corrective surgeries and to penetrating keratoplasty in the left eye, with little success. Now his best-corrected visual acuity is 1/10 in the right eye and light perception in the left eye. Given the continuous worsening of the ocular surface changes and decreasing visual acuity was proposed for osteo-odontokeratoprotesis and is now waiting for surgery.


Despite the fact that the cause of these changes is not yet completely understood, it is assumed that they are related to the tear film instability secondary to reduced meibomian and lacrimal gland function and persistent infections secondary to a defective lacrimal drainage system. It is believed that these changes are also related to mutations in the p63 gene, which result in limbar steam cells dysfunction. Since progressive visual impairment may be one of the most disabling features of EEC syndrome, this case illustrates the need for ophthalmic care of these pacients from an early age.

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