Severe ophthalmic findings in arterial tortuosity syndrome, with SCL2A10 variant

Background Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder caused by pathogenic variants in SLC2A10 , which encodes the glucose transporter GLUT10. This deficiency disrupts elastic fiber integrity, primarily affecting the vasculature but also involving skin, skeleton, and ocular tissues. While vascular manifestations such as arterial elongation, tortuosity, and stenosis are well-documented, detailed ophthalmologic descriptions—particularly corneal involvement—remain limited in the literature. This case report addresses this gap by presenting severe corneal pathology in an adult patient with genetically confirmed ATS, highlighting the importance of comprehensive ocular evaluation in this syndrome. Case presentation A 45-year-old woman with no relevant family history presented with congenital multilevel pulmonary artery stenosis, scoliosis, and migraines. Physical examination revealed characteristic dysmorphic features, including a long face, beaked nose, and hypertelorism. Ophthalmologic assessment showed best-corrected visual acuity of 20/50 (right eye) and 20/200 (left eye), with high myopic astigmatism. Slit-lamp examination identified bilateral globular corneal protrusion, peripheral thinning, and neovascularization. Anterior segment optical coherence tomography confirmed extreme corneal thinning (69 µm and 89 µm at the thinnest points) and irregular topography, with mean keratometry values of 64 and 67.5 diopters. These findings were consistent with keratoglobus, a rare ectatic disorder. Genetic analysis revealed compound heterozygous SLC2A10 variants (c.243C>G/p.Ser81Arg and c.1334del/p.Gly445GlufsTer40), confirming ATS. Conclusions This case underscores the potential for severe corneal involvement in ATS, supported by detailed imaging and genetic confirmation. The documentation of keratoglobus with extreme corneal thinning expands the known ophthalmologic spectrum of ATS and emphasizes the need for systematic ocular screening in affected individuals. Early recognition of such manifestations may guide multidisciplinary management and improve long-term visual outcomes.