Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report

Ocular manifestations are common associations of ectrodactyly-Ectodermal dysplasia-cleft palate (EEC) syndrome. We would like to report a case of a 48-year-old patient with EEC syndrome who manifested ocular and extraocular signs and symptoms. The ophthalmic findings in this patient included chronic...

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Detalles Bibliográficos
Autores principales: Mohd Jais, Mohammad Fahim, Wan Dien, Tai, Ang, Wen-Jeat, Raja Omar, Raja Norliza, Mohamad, Nor Fadhilah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095601/
https://www.ncbi.nlm.nih.gov/pubmed/37065317
http://dx.doi.org/10.7759/cureus.36086
Descripción
Sumario:Ocular manifestations are common associations of ectrodactyly-Ectodermal dysplasia-cleft palate (EEC) syndrome. We would like to report a case of a 48-year-old patient with EEC syndrome who manifested ocular and extraocular signs and symptoms. The ophthalmic findings in this patient included chronic blepharitis and absence of meibomian gland. There was also a presence of hazy cornea with vascularized corneal stroma and symblepharon involving the lower lid. Systemic conditions showed generalized dry and scaly skin with hand-foot split deformity. Therefore, ophthalmologists should be alert to spot and diagnose this condition as prompt treatment should be commenced considering this can be sight-threatening.

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