{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T15:38:05Z","timestamp":1770910685771,"version":"3.50.1"},"reference-count":26,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,10]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>A 45-year-old man presented to the ophthalmology department with visual symptoms in his left eye. Almost two decades ago, he required a renal transplant for focal segmental glomerular sclerosis and a detailed enquiry revealed a strong family history of renal and ocular disease. Fundus examination demonstrated significant optic disc dysplasia in his left eye and optical coherence tomography showed intraretinal fluid bilaterally. The diagnosis of papillorenal syndrome was suspected and genetic testing identified a heterozygous pathogenic variant in the <jats:italic>PAX2<\/jats:italic> gene c.76dupG, p.Val26Glyfs*28, confirming the diagnosis. The patient was treated conservatively, and his vision eventually improved and stabilised. His renal disease and transplant were concurrently monitored by nephrologists. In this case, history-taking and ophthalmic examination raised suspicion of this rare systemic condition, which led to genetic testing and molecular confirmation of the diagnosis. We therefore highlight this case to raise awareness of papillorenal syndrome, which has significant systemic implications and also impacts familial screening and genetic counselling.<\/jats:p>","DOI":"10.1136\/bcr-2021-241708","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T11:59:43Z","timestamp":1626782383000},"page":"e241708","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4296-2948","authenticated-orcid":false,"given":"Benjamin","family":"Ng","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha R","family":"De Silva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, UK"},{"name":"Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mandeep S","family":"Bindra","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,20]]},"reference":[{"key":"2025082711071671000_14.7.e241708.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-358"},{"key":"2025082711071671000_14.7.e241708.2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22020"},{"key":"2025082711071671000_14.7.e241708.3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11910-013-0363-2","article-title":"Congenital abnormalities of the optic nerve: from gene mutation to clinical expression","volume":"13","author":"Wall","year":"2013","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2025082711071671000_14.7.e241708.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"2025082711071671000_14.7.e241708.5","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006121344"},{"key":"2025082711071671000_14.7.e241708.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds163"},{"key":"2025082711071671000_14.7.e241708.7","first-page":"697","article-title":"On the clinical picture of Handmann\u2019s anomaly of the optic nerve morning glory syndrome?","volume":"170","author":"Rieger","year":"1977","journal-title":"Klin Monbl Augenheikd"},{"key":"2025082711071671000_14.7.e241708.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290318"},{"key":"2025082711071671000_14.7.e241708.9","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1242\/dev.109.4.797","article-title":"Spatially and temporally restricted expression of Pax2 during murine neurogenesis","volume":"109","author":"Nornes","year":"1990","journal-title":"Development"},{"key":"2025082711071671000_14.7.e241708.10","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8794"},{"key":"2025082711071671000_14.7.e241708.11","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000445679","article-title":"Diverse renal phenotypes observed in a single family with a genetic mutation in paired box protein 2","volume":"6","author":"Iwafuchi","year":"2016","journal-title":"Case Rep Nephrol Dial"},{"key":"2025082711071671000_14.7.e241708.12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200539"},{"key":"2025082711071671000_14.7.e241708.13","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(00)00661-8"},{"key":"2025082711071671000_14.7.e241708.14","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.jaapos.2008.03.001","article-title":"Of Pax2 laboratory mice and human papillorenal investigations: maintaining the distinctions between cause and effect","volume":"12","author":"Parsa","year":"2008","journal-title":"J Aapos"},{"key":"2025082711071671000_14.7.e241708.15","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1177\/112067210801800430","article-title":"Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new Pax2 mutation","volume":"18","author":"Samimi","year":"2008","journal-title":"Eur J Ophthalmol"},{"key":"2025082711071671000_14.7.e241708.16","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1749-x"},{"key":"2025082711071671000_14.7.e241708.17","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2205-x"},{"key":"2025082711071671000_14.7.e241708.18","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/S0002-9394(02)01533-7","article-title":"Papillorenal (\"renal coloboma\") syndrome","volume":"134","author":"Parsa","year":"2002","journal-title":"Am J Ophthalmol"},{"key":"2025082711071671000_14.7.e241708.19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590217"},{"key":"2025082711071671000_14.7.e241708.20","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1038\/eye.2009.330","article-title":"New ocular phenotype associated with a mutation in the Pax2 gene","volume":"24","author":"Beby","year":"2010","journal-title":"Eye"},{"key":"2025082711071671000_14.7.e241708.21","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"2025082711071671000_14.7.e241708.22","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23862"},{"key":"2025082711071671000_14.7.e241708.23","doi-asserted-by":"crossref","unstructured":"Tsang SH , Aycinena ARP , Sharma T . Ciliopathy: Senior-L\u00f8ken syndrome. In: Advances in experimental medicine and biology. Springer New York LLC, 2018: 175\u20138.","DOI":"10.1007\/978-3-319-95046-4_34"},{"key":"2025082711071671000_14.7.e241708.24","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000194"},{"key":"2025082711071671000_14.7.e241708.25","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430415"},{"key":"2025082711071671000_14.7.e241708.26","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-190041"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-241708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:07:26Z","timestamp":1756318046000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-241708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":26,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,20]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-241708"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-241708","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}