[Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report].

Arq Bras Oftalmol 2007 Jan-Feb;70(1):125-8

Departamento de Oftalmologia, Universidade Federal de São Paulo, Av. Comendador Adibo Ares 1021, São Paulo, SP, CEP 05613-001 Brazil.

A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0004-27492007000100023DOI Listing
January 2008

Publication Analysis

Top Keywords

ectrodactyly clefting
8
low visual
8
ocular modifications
8
dysplasia ectrodactyly
8
visual acuity
8
left eye
8
clefting syndrome
8
syndrome
6
ocular
5
identified patient
4
diagnosed systemic
4
modifications identified
4
systemic ocular
4
scar left
4
difficulties healing
4
eye difficulties
4
syndrome diagnosed
4
presented scar
4
patient presented
4
investigation complete
4

Similar Publications