{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:22:09Z","timestamp":1747149729768,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T00:00:00Z","timestamp":1674086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N\u2010acetylgalactosamine 4\u2010sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma. The purpose of this study was to retrospectively describe a series of MPS VI patients with optic neuropathy in order to deepen the knowledge regarding the causes of severe visual impairment among these patients. We present five genetically confirmed clinical cases of MPS VI, treated with enzymatic replacement therapy, and with regular systemic and ophthalmologic follow\u2010up. Corneal clouding was a common early presenting feature, leading to PK in four patients. During their follow\u2010up, all patients developed very low visual acuities regardless of corneal grafts outcomes and controlled intraocular pressure (IOP). Furthermore, all patients exhibited optic atrophy and imagiological evidence of significant subarachnoid space enlargement and consequent optic nerve thickness reduction, suggesting compression of the optic nerve in a retro\u2010ocular location as the cause of optic neuropathy. Although optic neuropathy in MPS VI is commonly attributed to glaucoma due to OHT, by describing a series of five MPS VI patients, we provided evidence that, differently from glaucoma, compression of optic nerve in a retro\u2010ocular location is crucial for the development of optic neuropathy, at least in some cases. We propose the denomination of posterior glaucoma and suggest it as an important cause of optic neuropathy, leading to severe visual impairment and blindness among these patients.<\/jats:p>","DOI":"10.1002\/jmd2.12351","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T11:59:52Z","timestamp":1674129592000},"page":"129-137","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Visual impairment in mucopolysaccharidosis <scp>VI<\/scp>"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1433-0708","authenticated-orcid":false,"given":"Augusto Monteiro","family":"Magalh\u00e3es","sequence":"first","affiliation":[{"name":"Department of Ophthalmology S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"},{"name":"Reference Centre of Inherited Metabolic Diseases, Pediatric Department S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3374-0016","authenticated-orcid":false,"given":"Ana Filipa","family":"Moleiro","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"},{"name":"Department of Surgery and Physiology Faculty of Medicine of University of Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esmeralda","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Reference Centre of Inherited Metabolic Diseases, Pediatric Department S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"},{"name":"Service of Pediatrics S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9rgio","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology S\u00e3o Jo\u00e3o University Hospital Center  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Le\u00e3o\u2010Teles","sequence":"additional","affiliation":[{"name":"Reference Centre of Inherited Metabolic Diseases, Pediatric Department S\u00e3o Jo\u00e3o University Hospital Center  Porto 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