{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T21:34:53Z","timestamp":1648762493496},"reference-count":9,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Monbl Augenheilkd"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Purpose Describing optic disc appearance in familial retinal arteriolar tortuosity (fRAT) using multimodal imaging and raising awareness of peripapillary arterial changes due to this disorder.<\/jats:p><jats:p>\n          Methods A cross-sectional study was performed in four consecutive patients of two non-related families. Detailed ophthalmological examination was performed and supported by medical and family history and multimodal imaging.<\/jats:p><jats:p>\n          Results In all subjects, increased tortuosity of second- and third-order retinal arteries in superior and deeper vascular plexus was documented. Furthermore, tortuosity in the peripapillary circle of Zinn-Haller was found. In addition, retinal vessel oximetry confirmed tortuosity only of the arterial vessels.<\/jats:p><jats:p>\n          Conclusion The present data suggests that a blurry bordered, hyperemic optic disc in the presence of abnormally tortuous arteriolar vessels and asymptomatically or oligosymptomatically spontaneously resolved hemorrhages could be associated with a fRAT. This finding could be linked to peripapillary arterial vessel tortuosity.<\/jats:p>","DOI":"10.1055\/a-1386-5788","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T23:22:29Z","timestamp":1618442549000},"page":"410-413","source":"Crossref","is-referenced-by-count":0,"title":["Optic Disc Features in Familial Retinal Arteriolar Tortuosity"],"prefix":"10.1055","volume":"238","author":[{"given":"Veronika","family":"Sinner","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St.\u00a0Gallen, St.\u00a0Gallen, Switzerland"},{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. H. Scholl), University of Basel, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Heckmann","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St.\u00a0Gallen, St.\u00a0Gallen, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veit","family":"Sturm","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St.\u00a0Gallen, St.\u00a0Gallen, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christophe","family":"Valmaggia","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St.\u00a0Gallen, St.\u00a0Gallen, Switzerland"},{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. H. Scholl), University of Basel, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita G.","family":"Todorova","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St.\u00a0Gallen, St.\u00a0Gallen, Switzerland"},{"name":"Department of Ophthalmology (Chairman Prof. Dr. med. H. Scholl), University of Basel, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,4,14]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1001\/archopht.116.9.1185","article-title":"Inherited retinal arteriolar tortuosity with retinal hemorrhages","volume":"116","author":"J Sears","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0039-6257(03)00029-8","article-title":"Familial retinal arteriolar tortuosity: a review","volume":"48","author":"F KP Sutter","year":"2003","journal-title":"Surv Ophthalmol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ajoc.2019.03.001","article-title":"Familial retinal arteriolar tortuosity and quantification of vascular tortuosity using swept-source optical coherence tomography angiography","volume":"14","author":"S S Saraf","year":"2019","journal-title":"Am J Ophthalmol Case Rep"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"397","DOI":"10.3928\/23258160-20180601-03","article-title":"Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity","volume":"49","author":"A Giocanti-Auregan","year":"2018","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"ref5","first-page":"568","article-title":"Development of retinal arteriolar tortuosity in previously unaffected family members","volume":"105 (Pt 5)","author":"I G Clearkin","year":"1986","journal-title":"Trans Ophthalmol Soc U K"},{"key":"ref6","first-page":"723","volume-title":"Normal and abnormal development: congenital deformities","author":"H Gauss","year":"1964"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"100869","DOI":"10.1016\/j.ajoc.2020.100869","article-title":"Unilateral vascular abnormality: A\u00a0case of peripheral retinal arteriolar tortuosity associated with a prepapillary vascular loop","volume":"20","author":"P S Patel","year":"2020","journal-title":"Am J Ophthalmol Case Rep"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1007\/s00417-014-2800-6","article-title":"Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity","volume":"252","author":"J Zenteno","year":"2014","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"18602","DOI":"10.1038\/srep18602","article-title":"Col4a1 mutations cause progressive retinal neovascular defects and retinopathy","volume":"6","author":"M V Alavi","year":"2016","journal-title":"Sci Rep"}],"container-title":["Klinische Monatsbl\u00e4tter f\u00fcr Augenheilkunde"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1386-5788.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T22:53:27Z","timestamp":1619823207000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1386-5788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":9,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2021,4,30]]},"published-print":{"date-parts":[[2021,4]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1386-5788","relation":{},"ISSN":["0023-2165","1439-3999"],"issn-type":[{"value":"0023-2165","type":"print"},{"value":"1439-3999","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4]]}}}