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

doi:10.1007/s10633-026-10104-y

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2026

Yeh Tsai-Chu, Velez Gabriel, Lee Soo Hyeon, Ngo Gia-Han, Kumar Aarushi, Al-Moujahed Ahmad, Yu Charles, Leung Loh Shan, Mruthyunjaya Prithvi, Mahajan Vinit B

Abstract excerpt

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, we report a novel hemizygous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electroretinography
Share to Fluorescein Angiography
Share to Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iduronate Sulfatase

Share to Mucopolysaccharidosis II

Share to Retinal Diseases

Share to Tomography, Optical Coherence

Share to Visual Fields

Source

Open in PubMed

Identifiers

PMID: 42033570
DOI: 10.1007/s10633-026-10104-y

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.