Crouzon Syndrome with unilateral blindness: A Case from Benguela, Angola

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Authors: Antonino Sambundo Benjamin Kapitão, José Luís de Paiva, Raúl Fernandes Tchitali, Eladio Geraldo Palanga, Ernesto Octávio Ussengue, Salomão Chiambo
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References: 10

Abstract

Background: Crouzon syndrome is a rare genetic craniosynostosis caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2), leading to premature suture fusion and characteristic craniofacial deformities. It is usually inherited in an autosomal dominant pattern with variable expression. Case Presentation: We describe a 15-year-old male from Benguela, Angola, presenting with progressive bilateral proptosis, cranial deformities, and unilateral visual loss. Computed tomography confirmed premature fusion of the coronal and sagittal sutures and shallow orbits, consistent with Crouzon syndrome. Ophthalmologic examination showed corneal leukoma and optic neuropathy in the right eye. Orbital decompression was indicated; however, irreversible blindness had already occurred due to delayed diagnosis. Conclusion: Early detection and coordinated multidisciplinary intervention involving ophthalmology, craniofacial surgery, genetics, and psychology are vital to improving outcomes. Reporting such cases from Africa enhances clinical awareness and underscores the need to strengthen diagnostic and surgical capacities for craniofacial disorders in developing regions.

Fields of Study & Subjects

Craniofacial Disorders and Treatments Ocular Disorders and Treatments Reconstructive Facial Surgery Techniques

Publication details

Journal / source
Health Care & Global Health
Volume
10
Issue
1
Pages
46–46
Publication date
15 March 2026
Language
EN