{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:24:02Z","timestamp":1762867442785,"version":"3.38.0"},"reference-count":10,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T00:00:00Z","timestamp":1528243200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:sec><jats:title>Purpose:<\/jats:title><jats:p> Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations. Herein, we present a rare case of a patient diagnosed with Alport syndrome and bilateral giant macular holes. <\/jats:p><\/jats:sec><jats:sec><jats:title>Case description:<\/jats:title><jats:p> A 40-year-old woman with a previously unreported mutation in the COL4A4 gene suggestive of autosomal-recessive Alport syndrome presented at our department. The patient exhibited bilateral full-thickness macular holes measuring &gt;1500\u2009\u00b5m at their smallest diameters. The very large dimensions of both macular holes were indicative of a bad prognosis regarding hole closure, and a conservative approach was adopted. The patient was maintained on renal substitution therapy, and genetic counseling was offered to other family members. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion:<\/jats:title><jats:p> Ophthalmological findings associated to Alport syndrome commonly include anterior lenticonus and dot-and-fleck retinopathy, although giant macular holes can also be associated with this condition. A multidisciplinary approach is crucial in the management of these patients, as Alport syndrome is an inherited systemic basement membrane disease. <\/jats:p><\/jats:sec>","DOI":"10.1177\/1120672118781232","type":"journal-article","created":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T11:50:51Z","timestamp":1528285851000},"page":"NP13-NP16","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":14,"title":["Bilateral giant macular holes: A rare manifestation of Alport syndrome"],"prefix":"10.1177","volume":"29","author":[{"given":"Miguel","family":"Raimundo","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"},{"name":"Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal"}]},{"given":"Cristina","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"},{"name":"Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal"}]},{"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"},{"name":"Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal"},{"name":"AIBILI\u2014Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal"}]},{"given":"Jo\u00e3o","family":"Figueira","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"},{"name":"Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal"},{"name":"AIBILI\u2014Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal"}]}],"member":"179","published-online":{"date-parts":[[2018,6,6]]},"reference":[{"key":"bibr1-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2009.65"},{"key":"bibr2-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2012.259"},{"key":"bibr3-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcrs.2009.03.019"},{"key":"bibr4-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3323"},{"key":"bibr5-1120672118781232","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.10581014"},{"key":"bibr6-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-0759-4"},{"key":"bibr7-1120672118781232","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.jfo.2011.12.007","volume":"35","author":"Merc\u00e9 E","year":"2012","journal-title":"J Fr Ophtalmol"},{"key":"bibr8-1120672118781232","doi-asserted-by":"publisher","DOI":"10.3109\/13816811003767128"},{"key":"bibr9-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.1996.tb00688.x"},{"key":"bibr10-1120672118781232","doi-asserted-by":"publisher","DOI":"10.1097\/01.ICB.0000279647.91700.b9"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1120672118781232","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1120672118781232","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1120672118781232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T23:19:35Z","timestamp":1740784775000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1120672118781232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,6]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1177\/1120672118781232"],"URL":"https:\/\/doi.org\/10.1177\/1120672118781232","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"type":"print","value":"1120-6721"},{"type":"electronic","value":"1724-6016"}],"subject":[],"published":{"date-parts":[[2018,6,6]]}}}