Posters

Corneal findings in ectrodactyly ectodermal dysplasia clefting syndrome: a clinical case

Poster Details

First Author: S.Parreira PORTUGAL

Co Author(s): D. Silva   M. Farah   V. Mascaro              

Abstract Details

Purpose:

The purpose of this study was to report the ocular findings in an unusual case of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and demonstrate the importance to follow these patients with an interdisciplinary approach to reduce complications and provide the best possible medical care.

Setting:

Corneal and External Disease Service, Federal University of São Paulo (UNIFESP),São Paulo, Brasil.

Methods:

EEC syndrome is a rare genetic disorder, characterized by a triad of clefting deformity of the hands and feet (ectrodactyly lobster claw deformity), ectodermal dysplasia, and facial clefting as being. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The ophthalmological problems are responsible for a wide variety of ocular surface disorders, such as recurrent corneal erosions, corneal opacification, vascularization, and perforation. The cause of such ocular surface disorders in EEC syndrome is still unclear. However, recent studies suggested that the corneal neovascularization was primarily due to the stem cell dysfunction.

Results:

A 13-year-old female with EEC syndrome was observed at Ophthalmology Department due to epiphora and conjunctival hyperemia. Best corrected visual acuity (BCVA) was 20/30 in both eyes. Examination revealed mild blepharitis and meibomitis, sparse eyelashes, absence of upper and lower lacrimal puncta and conjunctival hyperemia. Both corneas showed superficial pannus superiorly and inferiorly and stromal scarring (near to vascularization and near the visual axis). Conjunctival and corneal impression cytology was performed and confirmed the diagnosis of limbal stem cell deficiency. She has been treated with preservative free artificial tears and warm compresses and maintain regular follow-up for evaluation ocular symptoms.

Conclusions:

Corneal alterations in patients with EEC syndrome are due to multiple factors and may have a variable presentation. Recently a relationship with limbal deficiency was established. Chronic conjunctivitis and tear film abnormalities should be adequately treated to prevent the progression of the disease. Since these patients present several anomalies, it is important to follow an interdisciplinary approach to reduce complications, minimize undesirable sequelae and provide the best possible medical care.

Financial Disclosure:

None