Ophthalmological abnormalities in Dubowitz Syndrome

• Main Author: Soares, Andreia
• Publication Date: 2017
• Other Authors: Ribeiro, Sara
• Format: Report
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: https://doi.org/10.48560/rspo.10761
• topic: Comunicações Curtas e Imagens em Oftalmologia

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.