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ArticleDocumenta ophthalmologica. Advances in ophthalmology2026

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

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

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Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Tsai-Chu YehMolecular Surgery Laboratory, Stanford University, Palo Alto, CA, 94304, USA.
Gabriel VelezMolecular Surgery Laboratory, Stanford University, Palo Alto, CA, 94304, USA.
Soo Hyeon LeeMolecular Surgery Laboratory, Stanford University, Palo Alto, CA, 94304, USA.
Gia-Han NgoMolecular Surgery Laboratory, Stanford University, Palo Alto, CA, 94304, USA.
Aarushi KumarMolecular Surgery Laboratory, Stanford University, Palo Alto, CA, 94304, USA.
Ahmad Al-MoujahedDepartment of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, 94304, USA.
Charles YuDepartment of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, 94304, USA.
Loh Shan LeungDepartment of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, 94304, USA.
Prithvi MruthyunjayaDepartment of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, 94304, USA.
Vinit B MahajanMolecular Surgery Laboratory, Stanford University, Palo Alto, CA, 94304, USA. vinit.mahajan@stanford.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHunter 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 IDS variant in a patient who initially presented with isolated corneal and retinal pathology and was subsequently diagnosed with attenuated Hunter syndrome.

methodsComprehensive ophthalmic and retinal evaluation was performed, including multimodal retinal imaging and full-field electroretinography, alongside genetic testing.

resultsA 44-year-old male with progressive nyctalopia demonstrated bilateral parafoveal and peripheral retinal depigmentation with central macular sparing on optical coherence tomography and a symmetric bull's-eye pattern on fundus autofluorescence. Visual field testing revealed bilateral ring scotomas, and full-field electroretinography showed subnormal rod-predominant responses. Pedigree analysis suggested X-linked inheritance. Genetic testing identified a novel hemizygous IDS variant (c.707A > G, p.Lys236Arg), and the diagnosis of Hunter syndrome was supported by markedly reduced IDS activity and elevated urinary glycosaminoglycans with increased heparan sulfate.

conclusionA novel missense IDS mutation was identified in association with Hunter syndrome, highlighting the importance for ophthalmologists to consider MPS II in patients presenting with isolated retinopathy and the value of genetic diagnosis in revealing atypical systemic disease.

Indexed as

GlycoproteinsIduronate SulfataseMucopolysaccharidosis IIMutationRetinal DiseasesAdultDNA Mutational AnalysisElectroretinographyFluorescein AngiographyHumansMalePedigreePhenotypeTomography, Optical CoherenceVisual FieldsGlycoproteinsIDS protein, humanIduronate SulfataseHunter syndromeMucopolysaccharidosis type IIRetinal dystrophy

Identifiers

PMID42033570

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.