Refractive errors in patients with Bardet Biedl syndrome

ABSTRACT

Purpose

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy. Within corneal development, primary cilia serve a critical role. We sought to investigate the association of BBS with corneal astigmatism among a cohort of patients with BBS.

Methods

This was a cross-sectional, retrospective study performed at a pediatric ophthalmology department of a tertiary hospital. The study enrolled 45 patients with genetically confirmed Bardet-Biedl syndrome, encompassing a total of 90 eyes observed from February 2011 to August 2021. Spherical and cylindrical refractive errors and keratometry outcome measures, including diopter (D) values at the flattest and steepest axes, were recorded. Corneal astigmatism of greater than 3D is considered extreme corneal astigmatism based on previously published data.

Results

Among 45 patients (M:26; F:19), the mean age was 16.4 ± 8.2 years, and the mean best-corrected visual acuity was 20/60. The most common molecular diagnosis was BBS1, seen in 24 of 45 (53.3%). Among all the patients, the mean spherical refractive error was −2.9 ± 3.8D. The mean cylindrical refractive error was 2.6 ± 1.5D. The mean keratometry values at the flattest axis was 43.5 ± 5.3D (39.4–75.0) and at the steepest axis was 47.2 ± 7.3D(41.5–84.0). Among all the patients with BBS, the mean corneal astigmatism was 3.7 ± 1.0D(0.5–7.1), which is considered extreme.

Conclusion

A cohort of individuals with BBS demonstrated high corneal astigmatism. These results suggest an association between corneal astigmatism and primary ciliary dysfunction and may assist in clinical management and future therapeutic targets among BBS and other corneal disorders.

KEYWORDS:

• BBS
• Bardet Biedl
• astigmatism

Acknowledgments

The authors would like to thank all the staff for their help and assistance in research, patient recruitment, and clinical care of patients in the ophthalmology clinics at Boston Children’s Hospital.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Author’s contributors

Concept and design: LYS, ABF. Data collection: LYS. Original Manuscript Draft: LYS, GB. Critical Revision of Manuscript: LYS, GB, EAM, DGH, FR, ABF.

Data availability statement

Data are available upon reasonable request. Deidentified participant data, protocols, and statistical analysis are available from the corresponding author.

Ethical approval

The study was conducted in accordance with the tenets set forth in the Declaration of Helsinki, and all necessary authorizations were obtained from the Boston Children’s Hospital Institutional Review Board (Protocol #: P00024011).

Meeting presentation

The work from this manuscript has been presented at M. Judah Folkman Research Day in Boston, Massachusetts, June 2022, and World Cornea Congress VIII in Chicago, Illinois, September 2022.

Additional information

Funding

Dr. Anne B. Fulton’s Boston Children’s Hospital Department of Ophthalmology Faculty Chair.