[Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report].
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.
Almeida
Sandra Flávia Fiorentini de
SF
Departamento de Oftalmologia, Universidade Federal de São Paulo, Av. Comendador Adibo Ares 1021, São Paulo, SP, CEP 05613-001 Brazil. sandra.flavia@click21.com.br
Solari
Helena Parente
HP
D000328:Adult; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D013577:Syndrome