{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T18:54:20Z","timestamp":1773341660920,"version":"3.50.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T00:00:00Z","timestamp":1712188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T00:00:00Z","timestamp":1712188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Ophthalmol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Both cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12886-024-03418-5","type":"journal-article","created":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T08:02:27Z","timestamp":1712217747000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature"],"prefix":"10.1186","volume":"24","author":[{"given":"Tulin Aras","family":"Ogreden","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcrkan","family":"Erdo\u011fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,4]]},"reference":[{"key":"3418_CR1","first-page":"181","volume":"8","author":"WH Knobloch","year":"1971","unstructured":"Knobloch WH, Layer JM. Retinal detachment and encephalocele. J Pediat Ophthalmol. 1971;8:181\u20134.","journal-title":"J Pediat Ophthalmol"},{"issue":"6","key":"3418_CR2","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1136\/bjophthalmol-2011-301396","volume":"96","author":"AO Khan","year":"2012","unstructured":"Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol. 2012;96(6):890\u20135. https:\/\/doi.org\/10.1136\/bjophthalmol-2011-301396.","journal-title":"Br J Ophthalmol"},{"key":"3418_CR3","doi-asserted-by":"publisher","unstructured":"Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A et al. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. Am J Med Genet A. 2007;143A(23):2768-74. https:\/\/doi.org\/10.1002\/ajmg.a.31739. PMID: 17975799.","DOI":"10.1002\/ajmg.a.31739"},{"issue":"6","key":"3418_CR4","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1086\/344695","volume":"71","author":"OT Suzuki","year":"2002","unstructured":"Suzuki OT, Serti\u00e9 AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, et al. Molecular Analysis of Collagen XVIII reveals novel mutations, Presence of a third isoform, and possible genetic heterogeneity in Knobloch Syndrome. Am J Hum Genet Volume. 2002;71(6):1320\u20139.","journal-title":"Am J Hum Genet Volume"},{"key":"3418_CR5","doi-asserted-by":"publisher","unstructured":"Serti\u00e9 AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR, Collagen XVIII. containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet. 2000;9(13):2051-8. https:\/\/doi.org\/10.1093\/hmg\/9.13.2051. PMID: 10942434.","DOI":"10.1093\/hmg\/9.13.2051"},{"issue":"7","key":"3418_CR6","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1096\/fj.04-2134rev","volume":"19","author":"AG Marneros","year":"2005","unstructured":"Marneros AG, Olsen BR. Physiological role of collagen XVIII and endostatin. FASEB J. 2005;19(7):716\u201328. https:\/\/doi.org\/10.1096\/fj.04-2134rev.","journal-title":"FASEB J"},{"key":"3418_CR7","doi-asserted-by":"publisher","unstructured":"Wawrzynski J, Than J, Gillam M, Foster PJ. Acute angle closure in Knobloch syndrome. J Glaucoma. 2021;30(5):e265-e268. https:\/\/doi.org\/10.1097\/IJG.0000000000001781. PMID: 33449584.","DOI":"10.1097\/IJG.0000000000001781"},{"issue":"7","key":"3418_CR8","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1001\/jamaophthalmol.2016.1073","volume":"134","author":"S Hull","year":"2016","unstructured":"Hull S, Arno G, Ku CA, Ge Z, Waseem N. Molecular and clinical findings in patients with Knobloch Syndrome. JAMA Ophthalmol. 2016;134(7):753\u201362. https:\/\/doi.org\/10.1001\/jamaophthalmol.2016.1073.","journal-title":"JAMA Ophthalmol"},{"key":"3418_CR9","doi-asserted-by":"crossref","unstructured":"O\u2019Reilly MS, Boehm T, Shing Y, Fukai N, Vasios G, Lane WS et al. Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. Cell 88:277\u201385.","DOI":"10.1016\/S0092-8674(00)81848-6"},{"issue":"5","key":"3418_CR10","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.oret.2019.12.004","volume":"4","author":"SM Alsulaiman","year":"2020","unstructured":"Alsulaiman SM, Al-Abdullah AA, Alakeely A, Aldhibi H, Engelbrecht L, Ghazi NG, et al. Macular Hole-related retinal detachment in children with Knobloch Syndrome. Ophthalmol Retina. 2020;4(5):498\u2013503. Epub 2019 Dec 12.","journal-title":"Ophthalmol Retina"},{"issue":"6","key":"3418_CR11","first-page":"e40","volume":"51","author":"N Stavros","year":"2014","unstructured":"Stavros N, Moysidis MD, Hassan A, Aziz MD, Aleksandra V, Rachitskaya MD, Berrocal AM. MD. Prophylactic scleral buckle implantation in Knobloch Syndrome. J Pediat Ophthalmol. 2014;51(6):e40\u20133. Published Online: June 10, 2014.","journal-title":"J Pediat Ophthalmol"}],"container-title":["BMC Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12886-024-03418-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12886-024-03418-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12886-024-03418-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T08:04:02Z","timestamp":1712217842000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcophthalmol.biomedcentral.com\/articles\/10.1186\/s12886-024-03418-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,4]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3418"],"URL":"https:\/\/doi.org\/10.1186\/s12886-024-03418-5","relation":{},"ISSN":["1471-2415"],"issn-type":[{"value":"1471-2415","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,4]]},"assertion":[{"value":"5 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 April 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Ethics approval is not applicable. Participant consent has been obtained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent was obtained from the parents of the minor participants. Despite the inclusion of images containing external eye features that could potentially lead to participant identification, specific consent was also secured for the publication of these images in an online open-access format.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"149"}}