Crouzon Syndrome with Unilateral Blindness: A Case from Benguela, Angola

Síndrome de Crouzon y ceguera unilateral: reporte de un caso en Benguela, Angola

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. Keywords: Crouzon Syndrome; Craniofacial Dysostosis; Exophthalmos; Angola (Source: MeSH, NLM).