Ophthalmological abnormalities in Dubowitz Syndrome

Autores

  • Andreia Soares Hospital de Braga
  • Sara Ribeiro Hospital de Braga Hospital Lusíadas, Porto

DOI:

https://doi.org/10.48560/rspo.10761

Palavras-chave:

Dubowitz syndrome, ophthalmological abnormalities, facial dysmorphy, blepharophimosis, ptosis

Resumo

Introduction: Dubowitz syndrome is a rare autosomal recessive disorder characterized by several congenital abnormalities, which include a wide range of both external and intraocular ophthalmologic deformities. We present a case report of a patient with Dubowitz Syndrome.

Case report: A 3-year-old boy with Dubowitz syndrome was referred for ophthalmology consultation. The external ophthalmological examination showed bilateral blepharophimosis/ptosis, telecanthus and epicanthic folds. Cycloplegic retinoscopy revealed high hyperopia (+ 8.00 diopters) and the patient had convergent strabismus. Biomicroscopy and fundus examination were normal.

Discussion/Conclusion: Dubowitz syndrome should be considered in the differential diagnosis of syndromes that present with the described external ophthalmological malformations. The ophthalmologist has to refer these patients to a specialized group able to integrate these anomalies with other systemic deformities, allowing a correct diagnosis and proper treatment.

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Publicado

2017-10-31

Como Citar

Soares, A., & Ribeiro, S. (2017). Ophthalmological abnormalities in Dubowitz Syndrome. Revista Sociedade Portuguesa De Oftalmologia, 41(2), 71. https://doi.org/10.48560/rspo.10761

Edição

Secção

Comunicações Curtas e Imagens em Oftalmologia