Ophthalmological abnormalities in Dubowitz Syndrome
DOI:
https://doi.org/10.48560/rspo.10761Palavras-chave:
Dubowitz syndrome, ophthalmological abnormalities, facial dysmorphy, blepharophimosis, ptosisResumo
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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