Abstract
Purpose :
To study corneal astigmatism in BBS. The ciliopathy associated with BBS may contribute to increased proliferation and vertical migration of corneal epithelial basal-layer cells, thus consequent astigmatism.
Methods :
We studied the cycloplegic refraction and results of keratometry in 48 patients (96 eyes) with biallelic diagnosis of a form of BBS (BBS1, BBS2, BBS6, BBS7, BBS10, BBS12, or MKS1) seen at Boston Children’s Hospital from February 2011–August 2021.
Results :
The mean age of patients was 16.3 (± 8.0) years. The mean best-corrected visual acuity was 20/60, the mean keratometry value at the steepest axis was 48.05 D (±9.50) at 89 degrees, and the mean keratometry value at the flattest axis was 43.46 D (±6.35) at 168 degrees. Average corneal astigmatism was 4.59D (>4D = extreme range), mean spheric refractive error was -2.75 D (±3.88), and mean cylindric refractive error was -2.62 D (±1.39).
Conclusions :
Genetically diagnosed BBS patients demonstrated high corneal astigmatism. BBS is a member of the ciliopathy family, and corneal microtubule-based protrusion and corneal development/remodeling dysfunction can be linked. We suggest that these patients should be screened by corneal topographic evaluation and that the primary cilium should be considered a target in disease management.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.