Article

A novel IDS variant associated with an isolated ocular phenotype in Hunter syndrome

2026-03-02

Abstract excerpt

<title>Abstract</title> <p> Introduction: Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) mutations and is classically associated with multiple-organ-systems involvement. Ocular findings are usually reported in conjunction with systemic manifestations, and isolated ocular presentations have not been well characterized. Here,...

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Literature Corpus work: 67085dc3-93d5-5953-bfec-9cb32aa4cfd9
DOI: 10.21203/rs.3.rs-8912739/v1

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