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Examinations included visual acuity testing, orthoptic status, intraocular pressure (IOP) measurement, visual field testing, slit-lamp examination and fundus examination, Spectral-Domain Optical Coherence Tomography (SD-OCT), OCT-Angiography (OCT-A) and High Magnification Module\n                      <jats:sup>\u00ae<\/jats:sup>\n                      (HMM\n                      <jats:sup>\u00ae<\/jats:sup>\n                      ) imaging.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      LogMAR visual acuity (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and IOP (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) were significantly worse\/higher in MPS patients. Visual field defects showed a concentric restriction pattern, resembling to pigmentary retinopathy. Fundus examination of 56 eyes revealed optic disc atrophy in two eyes (all MPS II), atrophic macula in two eyes (both MPS II) and pigmentary retinopathy in twelve eyes (6 MPS II, 6 MPS IV). Total retinal thickness was significantly reduced in the parafoveal (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and perifoveal (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) macula area in MPS, especially in MPS II patients. Peripapillary retinal nerve fiber layer thickness correlated positively with IOP (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090,015) in the MPS group. OCT-A findings revealed reduced capillary density of the parafoveal and perifoveal retina in 8\/22 eyes in the MPS group (2 MPS I, 4 MPS II, 2 MPS IV). Rarefaction of the photoreceptor mosaic was observed in some MPS patients on HMM imaging.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>MPS patients exhibit impaired visual acuity and visual fields, higher IOP, and mircostructural and microvascular alterations of the optic disc and retina compared to healthy subjects.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00417-025-06954-y","type":"journal-article","created":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:47:59Z","timestamp":1760773679000},"page":"117-128","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Retinal microstructual and microvascular changes in mucopolysaccharidoses"],"prefix":"10.1007","volume":"264","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7229-0598","authenticated-orcid":false,"given":"Lucas","family":"Wipprecht","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna J.","family":"Borchers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia V.","family":"Stingl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia Segura","family":"Schmitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karoline","family":"von Plettenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia B.","family":"Hennermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Hopf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Pitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliane","family":"Matlach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,18]]},"reference":[{"issue":"4","key":"6954_CR1","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/j.rchipe.2015.10.004","volume":"87","author":"JL Suarez-Guerrero","year":"2016","unstructured":"Suarez-Guerrero JL et al (2016) [Mucopolysaccharidosis: clinical features, diagnosis and management]. 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Borchers, Julia V. Stingl, Lucia Segura Schmitz, Karoline von Plettenberg and Susanne Hopf declare no conflict of interest. Juliane Matlach has received honoraria for participating in advisory boards from AMGEN and Chiesi. Susanne Pitz received travel and lecture honoraria from Sanofi, ArgenX and Amgen. Heidelberg Engineering has provided the HMM\n                      \u00ae\n                      lens for photoreceptor imaging. Julia B. Hennermann has received travel expenses and\/or honoraria from Amicus, Chiesi, Sanofi, and Takeda.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}