In Vivo Imaging of Cone Photoreceptors in Mucopolysaccharidosis Type II and Retinal Degeneration: A Case Report.
4 affiliations
- 1Department of Ophthalmology, University of Leipzig, Leipzig, Germany.
- 2Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University of Mainz, Mainz, Germany.
- 3Department of Ophthalmology, Orbitazentrum, Bürgerhospital Frankfurt, Frankfurt, Germany.
- 4Center for Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg University of Mainz, Mainz, Germany.
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.
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BibTeX
@article{matlach2026vivo,
title = {{In Vivo Imaging of Cone Photoreceptors in Mucopolysaccharidosis Type II and Retinal Degeneration: A Case Report.}},
author = {Juliane Matlach and Lucas Wipprecht and Anna J Schmelmer and Julia V Stingl and Susanne Hopf and Susanne Pitz and Lisa Maria Maiurano and Julia B Hennermann},
journal = {Case reports in ophthalmology},
year = {2026},
month = sep,
doi = {10.1159/cop/acaag022},
url = {https://europepmc.org/article/MED/42953603},
note = {CC BY},
}
RIS
TY - JOUR
TI - In Vivo Imaging of Cone Photoreceptors in Mucopolysaccharidosis Type II and Retinal Degeneration: A Case Report.
AU - Juliane Matlach
AU - Lucas Wipprecht
AU - Anna J Schmelmer
AU - Julia V Stingl
AU - Susanne Hopf
AU - Susanne Pitz
AU - Lisa Maria Maiurano
AU - Julia B Hennermann
PY - 2026
DA - 2026/09/11
JO - Case reports in ophthalmology
DO - 10.1159/cop/acaag022
UR - https://europepmc.org/article/MED/42953603
AB - 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.
SN - 1663-2699
ER -