{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:11:20Z","timestamp":1785161480424,"version":"3.55.0"},"reference-count":14,"publisher":"BMJ","issue":"7","funder":[{"DOI":"10.13039\/501100005809","name":"Hyderabad Eye Research Foundation","doi-asserted-by":"publisher","award":["Intramural Grant"],"award-info":[{"award-number":["Intramural Grant"]}],"id":[{"id":"10.13039\/501100005809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,7,19]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>A toddler presented with photophobia and difficulty in focusing on objects since the age of 2 months. Further examination revealed complete aniridia, horizontal jerk nystagmus and a history of genitourinary anomalies. The suspicion of WAGR syndrome, a rare genetic disorder, was raised. Genetic testing confirmed a pathogenic deletion associated with WAGR syndrome, a rare contiguous gene deletion disorder characterised by aniridia, an increased risk of Wilms tumour, genitourinary abnormalities and variable neurodevelopmental involvement. At the most recent follow-up, neurodevelopmental evaluation revealed no developmental concerns. The child received tinted spectacle correction and regular follow-up visits. The family was provided with genetic consultation and educated about the need for ongoing monitoring and renal evaluations. This case emphasises the importance of timely recognition, intervention and genetic counselling to improve outcomes and quality of life for individuals with WAGR syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2025-265300","type":"journal-article","created":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T13:20:19Z","timestamp":1785158419000},"page":"e265300","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Ophthalmic features of WAGR syndrome: strategies for timely diagnosis, surveillance and improved quality of life"],"prefix":"10.1136","volume":"19","author":[{"given":"Sohini","family":"Mandal","sequence":"first","affiliation":[{"name":"Shantilal Sanghvi Cornea Institute, LV Prasad Eye Institute, Mithu Tulsi Chanrai Campus, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6453-5851","authenticated-orcid":false,"given":"Srikanta Kumar","family":"Padhy","sequence":"additional","affiliation":[{"name":"Anant Bajaj Retina Institute, LV Prasad Eye Institute, Mithu Tulsi Chanrai Campus, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,7,27]]},"reference":[{"key":"2026072706201298000_19.7.e265300.1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0467"},{"key":"2026072706201298000_19.7.e265300.2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2003.06.096"},{"key":"2026072706201298000_19.7.e265300.3","doi-asserted-by":"crossref","unstructured":"Clericuzio C , Hingorani M , Crolla JA , et al . Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet 2011;19. doi:10.1038\/ejhg.2010.220","DOI":"10.1038\/ejhg.2010.220"},{"key":"2026072706201298000_19.7.e265300.4","doi-asserted-by":"publisher","DOI":"10.1159\/000172086"},{"key":"2026072706201298000_19.7.e265300.5","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1002\/cncr.33304","article-title":"Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and\/or nephroblastomatosis: The 30-year SIOP-RTSG experience","volume":"127","author":"Hol","year":"2021","journal-title":"Cancer"},{"key":"2026072706201298000_19.7.e265300.6","unstructured":"Moosajee M , Hingorani M , Moore AT . PAX6-Related Aniridia. In: Adam MP , Bick S , Mirzaa GM , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, 2003."},{"key":"2026072706201298000_19.7.e265300.7","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.733018","article-title":"Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management","volume":"9","author":"Duffy","year":"2021","journal-title":"Front Pediatr"},{"key":"2026072706201298000_19.7.e265300.8","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2827"},{"key":"2026072706201298000_19.7.e265300.9","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1186\/s12886-017-0503-6","article-title":"Congenital aniridia with cataract: case series","volume":"17","author":"Wang","year":"2017","journal-title":"BMC Ophthalmol"},{"key":"2026072706201298000_19.7.e265300.10","doi-asserted-by":"crossref","DOI":"10.1167\/iovs.66.14.36","article-title":"Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia","volume":"66","author":"Zobor","year":"2025","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2026072706201298000_19.7.e265300.11","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s10633-021-09844-w","article-title":"Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations","volume":"143","author":"Dangremond","year":"2021","journal-title":"Doc Ophthalmol"},{"key":"2026072706201298000_19.7.e265300.12","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1053\/j.ajkd.2007.02.275","article-title":"Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome","volume":"49","author":"Dahan","year":"2007","journal-title":"Am J Kidney Dis"},{"key":"2026072706201298000_19.7.e265300.13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1097\/01.mcd.0000228424.12532.2b","article-title":"WAGR syndrome: is the \u201cR\u201d always justified?","volume":"16","author":"Termine","year":"2007","journal-title":"Clin Dysmorphol"},{"key":"2026072706201298000_19.7.e265300.14","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-0710"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265300","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T13:20:22Z","timestamp":1785158422000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":14,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026,7,27]]},"published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1136\/bcr-2025-265300"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265300","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]}}}