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Article

Expanding the phenotype of mucopolysaccharidosis type II retinopathy.

Ophthalmic genetics - 1 Oct 2021

Kowalski Tanya, Ruddle Jonathan B, de Jong Gerard, Mack Heather G

Abstract excerpt

Purpose: To report novel retinal findings in two male patients with mucopolysaccharidosis type II (Hunter syndrome) receiving long-term human recombinant idursulfase enzyme replacement therapy.Method: Two males aged 19 and 26 years who had received enzyme replacement therapy for 12 and 13 years, respectively, with good compliance and no infusion-related reactions, were examined clinically and underwent optical...

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Source

Identifiers

PMID: 34251974
DOI: 10.1080/13816810.2021.1938141

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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