Article

Severe ophthalmic findings in arterial tortuosity syndrome, with SCL2A10 variant

2026-03-12

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder caused by pathogenic variants in <italic>SLC2A10</italic> , 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 manife...

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Literature Corpus work: f20b8d21-689e-549a-96ec-1cb428c36fe2
DOI: 10.21203/rs.3.rs-8742755/v1

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