[Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report]. / Displasia ectodérmica, ectrodactilia e fissura lábio-palatal: manifestações oculares da síndrome em relato de caso.
Arq Bras Oftalmol
; 70(1): 125-8, 2007.
Article
em Pt
| MEDLINE
| ID: mdl-17505732
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
/
Deformidades Congênitas do Pé
/
Deformidades Congênitas da Mão
/
Oftalmopatias Hereditárias
/
Fenda Labial
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
Pt
Revista:
Arq Bras Oftalmol
Ano de publicação:
2007
Tipo de documento:
Article
País de publicação:
Brasil