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Article

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Ophthalmic genetics - 1 Jan 2000

Hardin Joshua S, Zarate Yuri A, Callewaert Bert, Phillips Paul H, Warner David B

Abstract excerpt

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...

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Share to Arteries
Share to Dilatation, Pathologic
Share to Glucose Transport Proteins, Facilitative

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Skin Diseases, Genetic

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Identifiers

PMID: 28726533
DOI: 10.1080/13816810.2017.1335332

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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