{
  "abstract": "Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder frequently associated with progressive pigmentary retinopathy and retinal degeneration. High-resolution, noninvasive imaging techniques have expanded our ability to assess photoreceptor integrity and retinal microvasculature in vivo. This study evaluates multimodal retinal imaging, including the High Magnification Module (HMM®) without adaptive optics (AO), in adults with MPS II. Three adult patients aged 22-45 years with genetically confirmed MPS II and pigmentary retinopathy underwent multimodal retinal imaging using spectral-domain optical coherence tomography (SD-OCT; Spectralis® OCT), OCT angiography (OCT-A), and the HMM® add-on lens. SD-OCT demonstrated perifoveal outer retinal atrophy, characterized by attenuation of the ellipsoid zone and thinning of the outer nuclear layer. In 1 patient with successful OCT-A image acquisition, OCT-A revealed reduced capillary density within regions corresponding to outer retinal atrophy, indicating associated microvascular compromise. In 1 patient with successful HMM image acquisition, high-magnification imaging with the HMM, performed without AO, showed clear rarefaction of cone photoreceptors in areas of structural loss, providing direct cellular-level insight into photoreceptor degeneration. The imaging quality in this patient allowed visualization of the cone mosaic despite the absence of AO. Multimodal retinal imaging combining SD-OCT, OCT-A, and HMM without AO may provide complementary information on photoreceptor structure and retinal microvasculature in patients with MPS II. This case series provides a proof-of-concept for the feasibility of HMM imaging in 1 patient for in vivo visualization of the cone mosaic in MPS II and highlights limitations in image acquisition in patients with more advanced retinal degeneration.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Ophthalmology, University of Leipzig, Leipzig, Germany.",
    "Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University of Mainz, Mainz, Germany.",
    "Department of Ophthalmology, Orbitazentrum, Bürgerhospital Frankfurt, Frankfurt, Germany.",
    "Center for Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg University of Mainz, Mainz, Germany."
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Juliane Matlach"
    },
    {
      "affs": [
        1
      ],
      "name": "Lucas Wipprecht"
    },
    {
      "affs": [
        1
      ],
      "name": "Anna J Schmelmer"
    },
    {
      "affs": [
        1
      ],
      "name": "Julia V Stingl"
    },
    {
      "affs": [
        1
      ],
      "name": "Susanne Hopf"
    },
    {
      "affs": [
        2
      ],
      "name": "Susanne Pitz"
    },
    {
      "affs": [
        3
      ],
      "name": "Lisa Maria Maiurano"
    },
    {
      "affs": [
        3
      ],
      "name": "Julia B Hennermann"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/c3tdd3cvhfg3t.bib",
  "cited_by": 0,
  "doi": "10.1159/cop/acaag022",
  "fulltext_url": "https://europepmc.org/articles/PMC13716403",
  "id": "c3tdd3cvhfg3t",
  "issns": [
    "1663-2699"
  ],
  "landing_url": "https://europepmc.org/article/MED/42953603",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "1312|Retinal Development and Disorders"
    ]
  ],
  "openalex": "W7220705645",
  "pdf_url": "https://europepmc.org/articles/PMC13716403?pdf=render",
  "pmcid": "PMC13716403",
  "pmid": "42953603",
  "published": "2026-09-11",
  "publisher": "Karger Publishers",
  "ris": "https://research.draconitic.com/paper/c3tdd3cvhfg3t.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:41Z",
      "native_id": "MED:42953603",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42953603"
    },
    {
      "first_seen": "2026-11-01T12:23:23Z",
      "native_id": "PMC13716403",
      "source": "pmc",
      "url": "https://doi.org/10.1159/cop/acaag022"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Retinal Development and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "In Vivo Imaging of Cone Photoreceptors in Mucopolysaccharidosis Type II and Retinal Degeneration: A Case Report.",
  "title_text": "In Vivo Imaging of Cone Photoreceptors in Mucopolysaccharidosis Type II and Retinal Degeneration: A Case Report.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:23:23Z",
  "url": "https://research.draconitic.com/paper/c3tdd3cvhfg3t",
  "venue": "Case reports in ophthalmology",
  "versions": []
}