Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome

ABSTRACT

Background

Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pathogenic variants in the SMARCA2 gene on chromosome 9p24.3. NCBRS typically presents with dysmorphic facial features, seizures, intellectual disability, and developmental delays. Abnormal findings of the eye and ocular adnexa associated with NCBRS have not been systematically evaluated and summarized in literature. This report presents the case of a 4-year-old male with NCBRS along with a systematic review of literature of the abnormal ophthalmologic and facial features of NCBRS cases.

Methods

A systematic review of literature of published cases of molecularly confirmed NCBRS was performed and the frequencies of eye, ocular adnexa, and facial abnormalities were calculated.

Results

Our patient’s abnormal eye features include myopia, down slanting palpebral fissures, sagging inferior periorbital skin, hypertelorism, and long eyelashes. From the systemic review of literature, the most common abnormal eye and ocular adnexa features include prominent/long eyelashes, thick eyebrows, sagging periorbital skin, down slanting palpebral fissures, and ptosis. The most common facial dysmorphic features include thick/everted lower lip, coarse facial features, wide/large mouth, and thin upper lip. Dental abnormalities are also commonly reported.

Conclusions

NCBRS frequently presents with well-defined ophthalmic and facial abnormalities. Prompt ophthalmologic evaluation following NCBRS diagnosis may be recommended to screen for several eye disorders. Surgical correction of ptosis may be indicated for NCBRS patients. This report may help further delineate the phenotype of this condition, which may allow for more rapid identification of those affected and provide incentive for additional studies.

KEYWORDS:

• Nicolaides-Baraitser
• SMARCA2
• trichomegaly
• myopia

Disclosure statement

Natario L. Couser, MD, MS:

1. Retrophin, Inc./Travere Therapeutics, Inc. (Clinical Trial)

2. National Cancer Institute/Children's Oncology Group (Clinical Trial)

3. Elsevier (Book editor)

4. Patient-Centered Outcomes Research Institute (PCORI; Advisory Panel on Rare Disease)

Consent

Written consent has been obtained.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/13816810.2022.2089358.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.