{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T23:47:06Z","timestamp":1726012026610},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T00:00:00Z","timestamp":1607904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T00:00:00Z","timestamp":1607904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ophthalmologe"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1007\/s00347-020-01282-4","type":"journal-article","created":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T11:07:03Z","timestamp":1607944023000},"page":"113-118","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ophthalmologische Manifestationen bei neuronalen Ceroid-Lipofuszinosen (NCL)","Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL)"],"prefix":"10.1007","volume":"118","author":[{"given":"Yevgeniya","family":"Atiskova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfried","family":"Kohlsch\u00fctter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin Stephan","family":"Spitzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Dulz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,12,14]]},"reference":[{"key":"1282_CR1","doi-asserted-by":"publisher","first-page":"E530","DOI":"10.1002\/humu.20975","volume":"30","author":"C Aiello","year":"2009","unstructured":"Aiello\u00a0C, Terracciano\u00a0A, Simonati\u00a0A et al (2009) Mutations in MFSD8\/CLN7 are a\u00a0frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Hum Mutat 30:E530\u2013E540","journal-title":"Hum Mutat"},{"key":"1282_CR2","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1093\/med\/9780199590018.003.0006","volume-title":"The neuronal ceroid lipofuscinoses (Batten disease)","author":"T Autti","year":"2011","unstructured":"Autti\u00a0T, Cooper\u00a0J, Van Diggelen\u00a0O et\u00a0al (2011) CLN1. In: Mole\u00a0SE, Williams\u00a0RE, Goebel\u00a0HH (Hrsg) The neuronal ceroid lipofuscinoses (Batten disease). Oxford University Press, Oxford, S\u00a055\u201379"},{"key":"1282_CR3","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1111\/cge.13673","volume":"97","author":"M Bauwens","year":"2020","unstructured":"Bauwens\u00a0M, Storch\u00a0S, Weisschuh\u00a0N et\u00a0al (2020) Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Clin Genet 97:426\u2013436","journal-title":"Clin Genet"},{"key":"1282_CR4","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1136\/bjophthalmol-2015-307320","volume":"100","author":"S Dulz","year":"2016","unstructured":"Dulz\u00a0S, Wagenfeld\u00a0L, Nickel\u00a0M et\u00a0al (2016) Novel morphological macular findings in juvenile CLN3 disease. Br J Ophthalmol 100:824\u2013828","journal-title":"Br J Ophthalmol"},{"key":"1282_CR5","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1093\/brain\/awz377","volume":"143","author":"V Huin","year":"2020","unstructured":"Huin\u00a0V, Barbier\u00a0M, Bottani\u00a0A et\u00a0al (2020) Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain 143:303\u2013319","journal-title":"Brain"},{"key":"1282_CR6","doi-asserted-by":"publisher","first-page":"2906","DOI":"10.1167\/iovs.16-20608","volume":"58","author":"KN Khan","year":"2017","unstructured":"Khan\u00a0KN, El-Asrag\u00a0ME, Ku\u00a0CA et al (2017) Specific alleles of CLN7\/MFSD8, a\u00a0protein that localizes to photoreceptor synaptic terminals, cause a\u00a0spectrum of nonsyndromic retinal dystrophy. Invest Ophthalmol Vis Sci 58:2906\u20132914","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"Suppl 1","key":"1282_CR7","first-page":"682","volume":"13","author":"A Kohlsch\u00fctter","year":"2016","unstructured":"Kohlsch\u00fctter\u00a0A, Schulz\u00a0A (2016) CLN2 disease (classic late infantile neuronal ceroid lipofuscinosis). Pediatr Endocrinol Rev 13(Suppl 1):682\u2013688","journal-title":"Pediatr Endocrinol Rev"},{"key":"1282_CR8","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1007\/s40263-019-00620-8","volume":"33","author":"A Kohlsch\u00fctter","year":"2019","unstructured":"Kohlsch\u00fctter\u00a0A, Schulz\u00a0A, Bartsch\u00a0U et\u00a0al (2019) Current and emerging treatment strategies for neuronal ceroid lipofuscinoses. CNS Drugs 33:315\u2013325","journal-title":"CNS Drugs"},{"key":"1282_CR9","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1093\/brain\/awn366","volume":"132","author":"M Kousi","year":"2009","unstructured":"Kousi\u00a0M, Siintola\u00a0E, Dvorakova\u00a0L et al (2009) Mutations in CLN7\/MFSD8 are a\u00a0common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain 132:810\u2013819","journal-title":"Brain"},{"issue":"7","key":"1282_CR10","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1016\/j.oret.2020.01.011","volume":"4","author":"KD Kovacs","year":"2020","unstructured":"Kovacs\u00a0KD, Patel\u00a0S, Orlin\u00a0A et al (2020) Symmetric age association of retinal degeneration in patients with CLN2-associated Batten disease. Ophthalmol Retina 4(7):728\u2013736","journal-title":"Ophthalmol Retina"},{"key":"1282_CR11","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1001\/jamaophthalmol.2017.1401","volume":"135","author":"CA Ku","year":"2017","unstructured":"Ku\u00a0CA, Hull\u00a0S, Arno\u00a0G et al (2017) Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration. JAMA Ophthalmol 135:749\u2013760","journal-title":"JAMA Ophthalmol"},{"key":"1282_CR12","unstructured":"Mole SE, Gardner E (2018) NCL mutation and patient database. https:\/\/www.ucl.ac.uk\/ncl\/mutation.shtml. Zugegriffen: 01.10.2020"},{"key":"1282_CR13","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1684\/epd.2016.0804","volume":"18","author":"DA Nita","year":"2016","unstructured":"Nita\u00a0DA, Mole\u00a0SE, Minassian\u00a0BA (2016) Neuronal ceroid lipofuscinoses. Epileptic Disord 18:73\u201388","journal-title":"Epileptic Disord"},{"key":"1282_CR14","doi-asserted-by":"publisher","first-page":"e73128","DOI":"10.1371\/journal.pone.0073128","volume":"8","author":"A Orlin","year":"2013","unstructured":"Orlin\u00a0A, Sondhi\u00a0D, Witmer\u00a0MT et al (2013) Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. PLoS One 8:e73128","journal-title":"PLoS One"},{"key":"1282_CR15","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1111\/nyas.12990","volume":"1371","author":"MM Ouseph","year":"2016","unstructured":"Ouseph\u00a0MM, Kleinman\u00a0ME, Wang\u00a0QJ (2016) Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). Ann N Y Acad Sci 1371:55\u201367","journal-title":"Ann N Y Acad Sci"},{"key":"1282_CR16","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1080\/13816810.2016.1210651","volume":"38","author":"MN Preising","year":"2017","unstructured":"Preising\u00a0MN, Abura\u00a0M, J\u00e4ger\u00a0M et\u00a0al (2017) Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life. Ophthalmic Genet 38:252\u2013259","journal-title":"Ophthalmic Genet"},{"key":"1282_CR17","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/0022-510X(73)90075-0","volume":"18","author":"P Santavuori","year":"1973","unstructured":"Santavuori\u00a0P, Haltia\u00a0M, Rapola\u00a0J et al (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15\u00a0patients. J\u00a0Neurol Sci 18:257\u2013267","journal-title":"J Neurol Sci"},{"key":"1282_CR18","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.1056\/NEJMoa1712649","volume":"378","author":"A Schulz","year":"2018","unstructured":"Schulz\u00a0A, Ajayi\u00a0T, Specchio\u00a0N et\u00a0al (2018) Study of Intraventricular cerliponase alfa for CLN2 disease. N\u00a0Engl J Med 378:1898\u20131907","journal-title":"N Engl J Med"},{"key":"1282_CR19","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1007\/s003470050158","volume":"94","author":"M Seeliger","year":"1997","unstructured":"Seeliger\u00a0M, Ruther\u00a0K, Apfelstedt-Sylla\u00a0E et al (1997) Juvenile neuronal ceroid lipofuscinosis (Batten-Mayou) disease. Ophthalmologic diagnosis and findings. Ophthalmologe 94:557\u2013562","journal-title":"Ophthalmologe"},{"key":"1282_CR20","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.ajo.2020.07.015","volume":"220","author":"D Simon","year":"2020","unstructured":"Dulz S, Atiskova Y, Wibbeler E et al. (2020) An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease. Am J Ophthalmol 220:64\u201371","journal-title":"Am J Ophthalmol"},{"key":"1282_CR21","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1016\/j.ajhg.2012.04.021","volume":"90","author":"KR Smith","year":"2012","unstructured":"Smith\u00a0KR, Damiano\u00a0J, Franceschetti\u00a0S et al (2012) Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet 90:1102\u20131107","journal-title":"Am J Hum Genet"},{"key":"1282_CR22","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1007\/s00439-013-1381-5","volume":"133","author":"F Wang","year":"2014","unstructured":"Wang\u00a0F, Wang\u00a0H, Tuan\u00a0HF et al (2014) Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a\u00a0novel genotype-phenotype correlation and clinical refinements. Hum Genet 133:331\u2013345","journal-title":"Hum Genet"},{"issue":"Pt 3b","key":"1282_CR23","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/eye.1998.148","volume":"12","author":"RG Weleber","year":"1998","unstructured":"Weleber\u00a0RG (1998) The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye (Lond) 12(Pt 3b):580\u2013590","journal-title":"Eye (Lond)"},{"key":"1282_CR24","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.ymgme.2004.06.019","volume":"83","author":"RG Weleber","year":"2004","unstructured":"Weleber\u00a0RG, Gupta\u00a0N, Trzupek\u00a0KM et\u00a0al (2004) Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). Mol Genet Metab 83:128\u2013137","journal-title":"Mol Genet Metab"},{"key":"1282_CR25","doi-asserted-by":"publisher","first-page":"108135","DOI":"10.1016\/j.exer.2020.108135","volume":"198","author":"REH Whiting","year":"2020","unstructured":"Whiting\u00a0REH, Robinson\u00a0GO, Ota-Kuroki\u00a0J et al (2020) Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 198:108135","journal-title":"Exp Eye Res"},{"key":"1282_CR26","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.oret.2019.11.005","volume":"4","author":"GA Wright","year":"2020","unstructured":"Wright\u00a0GA, Georgiou\u00a0M, Robson\u00a0AG et\u00a0al (2020) Juvenile Batten disease (CLN3): detailed ocular phenotype, novel observations, delayed diagnosis, masquerades, and prospects for therapy. Ophthalmol Retina 4:433\u2013445","journal-title":"Ophthalmol Retina"}],"container-title":["Der Ophthalmologe"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00347-020-01282-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00347-020-01282-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00347-020-01282-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T06:44:53Z","timestamp":1697352293000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00347-020-01282-4"}},"subtitle":["NCL als Erkrankungen von Retina und Gehirn\u00a0\u2013 Rolle der Augen\u00e4rzte","NCL as diseases of brain and retina\u2014the role of ophthalmologists"],"short-title":[],"issued":{"date-parts":[[2020,12,14]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["1282"],"URL":"https:\/\/doi.org\/10.1007\/s00347-020-01282-4","relation":{},"ISSN":["0941-293X","1433-0423"],"issn-type":[{"value":"0941-293X","type":"print"},{"value":"1433-0423","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,14]]},"assertion":[{"value":"14 December 2020","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"Y.\u00a0Atiskova und S.\u00a0Dulz erhalten Beraterhonorar von Neurogene Inc. A.\u00a0Kohlsch\u00fctter erh\u00e4lt Beraterhonorar von Biomarin Pharmaceutical. S.\u00a0Dulz bezieht finanzielle Forschungsf\u00f6rderung von Biomarin Pharmaceutical. M.S.\u00a0Spitzer gibt an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien. F\u00fcr Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, \u00fcber die Patienten zu identifizieren sind, liegt von ihnen und\/oder ihren gesetzlichen Vertretern eine schriftliche Einwilligung vor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}