Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report

Introduction and importance: Nicolaides-Baraitser Syndrome (NCBRS) is a rare autosomal dominant disease characterized by developmental delay, distinctive craniofacial features, sparse hair, and caused by de novo mutations in the SMARCA2 gene. Case presentation: We report the case of an 11-year-old male with NCBRS presenting with bilateral congenital glaucoma, diagnosis was based on clinical presentation, such as attention deficit hyperactivity disorder, cognitive delay, and characteristic craniofacial features, and confirmed by the presence of a de novo mutation in the SMARCA2 gene by whole-exome sequencing. Clinical Discussion: This case of a child with bilateral congenital glaucoma contributes further evidence for abnormal ocular features associated with the phenotypic spectrum of NCBRS, marking only the third such case reported in the literature. Conclusion: This rare association of NCBRS with bilateral congenital glaucoma highlights the importance of ophthalmologic screening in patients with NCBRS.