INTRODUCTION: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive 
disease hallmarked by tortuosity, stenosis, and aneurysm development of large- 
and medium-sized arteries. Mutations in SLC2A10, a gene that encodes the 
facilitative glucose transporter GLUT10, cause ATS. Several case reports have 
noted associated ophthalmic findings such as keratoconus, keratoglobus, and 
myopia without detailed descriptions or standardized examinations. We report the 
ophthalmic findings in a cohort of compound heterozygous ATS patients and 
heterozygous carriers of SLC2A10 mutations.
METHODS: Five ATS patients and three carriers were identified through an ATS 
specialty clinic at the Arkansas Children's Hospital in Little Rock, Arkansas. 
Patients underwent complete eye examinations, including corneal pachymetry, 
topography, and optical coherence tomography when indicated.
RESULTS: All five patients with ATS had myopia and thin corneas with an average 
central corneal thickness of 426 µm, and three had corneal ectasia, two with 
early keratoconus and one with keratoglobus and deep stromal corneal opacities. 
One patient had bilateral high irregular astigmatism, and one had unilateral 
high regular astigmatism. All carriers had myopia, one had corneal thinning, and 
one developed keratectasia in one eye many years after laser-assisted in situ 
keratomileusis (LASIK) surgery.
CONCLUSION: We document a spectrum of ophthalmic manifestations of ATS with 
universal findings of myopia, corneal thinning, and a propensity for corneal 
ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may 
develop keratectasia after corneal refractive surgery. Our data support regular 
eye examinations for all patients carrying SLC2A10 mutations with follow-up 
tailored to clinical findings.