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

Sep 29, 2026

Rare autosomal dominant Nicolaides-Baraitser syndrome (NCBRS), caused by de novo SMARCA2 mutations, is associated with developmental delay and characteristic craniofacial and neurological features. A reported 11-year-old male with NCBRS presented with bilateral congenital glaucoma. Diagnosis relied on clinical findings including cognitive delay and dysmorphic features, then was confirmed by whole-exome sequencing detecting a de novo SMARCA2 mutation. The case adds evidence to the ocular phenotypic spectrum and supports early ophthalmologic screening in NCBRS patients.

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Introduction

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Case Report Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report Yahya A. Alyahya, MDa ,*, Ehab Y. Alsirhy, MDb , Saeed F. Alwadani, MDc , Tariq A. Al-Anazi, MDa , Altaf A. Kondkar, PhDd , Taif A. Azad, PhDd Introduction and importance: Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant disease characterized by developmental delay, distinctive craniofacial features, sparse hair, and is 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. The 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 through whole-exome sequencing. Clinical discussion: This case of a child with bilateral congenital glaucoma contributes further evidence of 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. Keywords: case report, childhood glaucoma, NCBRS, ophthalmology, SMARCA2 Introduction Nicolaides–Baraitser syndrome (NCBRS, OMIM \# 601358) is a rare genetic disorder with only 100 cases reported globally[1,2] . It is characterized by moderate-to-severe intellectual disability and developmental delays, which may include speech and cognitive developmental impairments[2] . Common phenotypic facial manifestations of affected individuals include a prominent forehead, wide spacing of the eyes or hypertelorism, a short upturned nose with a broad nasal bridge, a long philtrum, anda thin upper lip. Neurological abnormalities include seizures, hypotonia, microcephaly, and structural brain anomalies[1,3] . Other associated features are musculoskeletal malformations such as short stature, joint contractures, and spinal scoliosis[3] . Other appearances include feeding issues, gastrointestinal difficulties, hearing loss, and vision disturbances[4] . Though NCBRS aOphthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia, bGlaucoma and Cataract Consultant, Ophthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia, cOphthalmology Consultant, Ophthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia and dDepartment of Ophthalmology, Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia Sponsorships or competing interests that may be relevant to the content are disclosed at the end of this article. *Corresponding author. Address: Ophthalmology Department, King Saud University, College of Medicine, Almalaz Disrtict, Riyadh 12629, Saudi Arabia, [Tel.: 966550138808. E-mail: Dr.Yahya012@gmail.com](Tel.: 966550138808. E-mail: Dr.Yahya012@gmail.com) (Y. A. Alyahya). Copyright © 2025 The Author(s). Published by Wolters Kluwer Health, Inc. This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Annals of Medicine & Surgery (2026) 88:902–904 Received 21 July 2025; Accepted 20 November 2025 Published online 4 December 2025 [http://dx.doi.org/10.1097/MS9.0000000000004499](http://dx.doi.org/10.1097/MS9.0000000000004499) HIGHLIGHTS ● Rare case of bilateral glaucoma in a child with NicolaidesBaraitser syndrome (NCBRS) . ● First reported case of a Saudi Arabian patient with NCBRS and congenital glaucoma. ● Genetic testing confirmed the SMARCA2 mutation through whole-exome sequencing. ● Case highlights the need for early eye screening in NCBRS patients. is

FAQs

What is Nicolaides-Baraitser syndrome and what causes it?

Nicolaides-Baraitser syndrome is a rare autosomal dominant disorder caused by de novo mutations in the SMARCA2 gene. It is characterized by developmental delay and distinctive craniofacial features, among other findings.

How was bilateral congenital glaucoma diagnosed in the child?

Bilateral congenital glaucoma was identified through clinical ophthalmic evaluation and history of primary congenital glaucoma. The suspected NCBRS diagnosis was later confirmed genetically.

What role did whole-exome sequencing play in this case?

Whole-exome sequencing confirmed a de novo SMARCA2 mutation, establishing the diagnosis of NCBRS. Genetic confirmation supported linking the syndrome with the rare ocular presentation.

Sep 29, 2026

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