{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T12:40:55Z","timestamp":1760013655397,"version":"build-2065373602"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Klinikum der Universit\u00e4t M\u00fcnchen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>In this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the peripapillary retinal nerve fiber layer (pRNFL), the optic disc volumes, the prelaminar depth and the macular ganglion cell layer volumes (mGCL) in patients with genetically confirmed infantile nephropathic cystinosis. The same measurements were repeated in an age -and spherical equivalent (SE) matched, healthy control group. <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p> The cystinosis group included 40 patients (40 eyes) with a mean age of 20.6\u2009\u00b1\u20098.6 years and a SE of 0.47\u2009\u00b1\u20091.85. The healthy control group consisted of 30 patients (30 eyes) with a mean age of 20.7\u2009\u00b1\u200912.5 years and a SE of 0.47\u2009\u00b1\u20091.29. A pronounced deposition of crystals in the optic disc was observed in all cystinosis cases. Cystine crystals follow the nerve fibers in a dense, pearl-string pattern. A significantly thicker pRNFL and a higher rate of positive prelaminar depth was evident in the cystinosis group (839.7\u2009\u00b1\u2009151.0\u00a0\u03bcm vs. 775.7\u2009\u00b1\u200979.6\u00a0\u03bcm, <jats:italic>p<\/jats:italic>\u2009=\u20090.004). A significantly smaller mGCL volume was found in the cystinosis group as compared to normal controls (0.25\u2009\u00b1\u20090.03\u00a0mm\u00b3 vs. 0.35\u2009\u00b1\u20090.03\u00a0mm\u00b3, <jats:italic>p<\/jats:italic>\u2009=\u20090.036).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Cystinosis leads to pronounced crystal accumulation in the optic disc in early stages of the disease. This accumulation occurs in concomitance with the well-described cystine crystal deposits in the cornea, which have previously been considered the foremost ocular sign of cystinosis. The pearl-string appearance of crystal deposition suggests a primarily glial localization. A significantly thicker pRNFL and a higher rate of positive prelaminar depth was observed in the OCT scans of cystinosis patients, explaining the clinical impression of a crowded optic disc. Additionally, retinal neurodegeneration was significant in patients with cystinosis if compared to healthy controls. The optic disc crowding may result from the dense deposition of cystine crystals in the optic nerve head and the GCL thinning could be due to metabolically induced ganglion cell atrophy. However, the exact reason for these changes remains to be elucidated.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-025-04018-2","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T12:23:33Z","timestamp":1760012613000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuroretinal structure changes in infantile nephropathic cystinosis"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4144-5754","authenticated-orcid":false,"given":"Leonie Franziska","family":"Keidel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neringa","family":"Jurkute","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schworm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina","family":"Hohenfellner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siegfried","family":"Priglinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel","family":"Petzold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Priglinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"issue":"2","key":"4018_CR1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1159\/000495270","volume":"141","author":"D David","year":"2019","unstructured":"David D, Princiero Berlingerio S, Elmonem MA, Oliveira Arcolino F, Soliman N, van den Heuvel B, et al. 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Leonie Keidel received previous speaker fees and\/or travel expenses from Novartis Pharma GmbH, Recordati Rare Diseases Inc., CHIESI GmbH, Roche Diagnostics GmbH, DORC Holding BV and Santen GmbH.Neringa Jurkute received speaker honoraria, consultancy fees, research and\/or travel expenses from Chiesi Farmaceutici S.p.A. Benedikt Schworm received previous speaker fees and travel expenses from Novartis Pharma GmbH and Topcon Corporation. Katharina Hohenfellner took part in advisory boards from Recordati Rare Diseases Inc and Chiesi Farmaceutici S.p.A. Siegfried Priglinger received previous speaker fees and\/or travel expenses from Novartis Pharma GmbH, Oertli AG, Bayer AG, Alcon Pharma GmbH and Pharm-Allergan GmbH. Axel Petzold has nothing to disclose.Claudia Priglinger received previous speaker fees from Novartis Pharma GmbH and travel expenses from Recordati Rare Diseases Inc.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Ethics committee approval for this study was by Ethikkommission der Bayerischen Landes\u00e4rztekammer Identifier 23004; Ethikkommission LMU Munich Identifier 25\u20130079. A normal control group, matched for age and spherical equivalent was recruited. Consent to use their data for analysis was obtained from all participating patients\/their legal guardians. The ethics committee identifier for measurements of healthy controls was 19\u2013799. All research and measurements followed the tenets of the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent to use their data for scientific publication was obtained from all participating patients\/their legal guardians.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"508"}}