{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T12:37:35Z","timestamp":1776688655360,"version":"3.51.2"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.<\/jats:p>","DOI":"10.1136\/bcr-2013-201140","type":"journal-article","created":{"date-parts":[[2013,12,18]],"date-time":"2013-12-18T16:47:43Z","timestamp":1387385263000},"page":"bcr2013201140","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Anisometropic amblyopia in a case of type 2 Waardenburg syndrome"],"prefix":"10.1136","volume":"2013","author":[{"given":"Ali","family":"Akal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tugba","family":"G\u00f6nc\u00fc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurefsan","family":"Boyaci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6mer Faruk","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,12,18]]},"reference":[{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.85.11.1384"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.2003.01949_3.x"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.3","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness","volume":"3","author":"Waardenburg","year":"1951","journal-title":"Am J Hum Genet"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.4","unstructured":"Apayd\u0131n F Pfister M Bereketo\u011flu M . Waardenburg sendromu: De\u011fi\u015fken penetrans g\u00f6steren heterojen bir hastal\u0131k. 25. Ulusal T\u00fcrk Otorinolarengoloji ve ba\u015f-boyun cerrahisi kongresi Eyl\u00fcl 1999, \u0130zmir."},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.5","first-page":"902","article-title":"Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS Consortium","volume":"50","author":"Farrer","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.6","doi-asserted-by":"publisher","DOI":"10.1007\/BF02154734"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.7","first-page":"37","article-title":"Waardenburg sendromu: Klinik s\u0131n\u0131flama ve \u00fc\u00e7 farkl\u0131 olgu sunumu","volume":"2","author":"Tosun","year":"2000","journal-title":"Kulak Burun Bo\u011faz Klinikleri"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0030-6665(05)70195-X"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.9","doi-asserted-by":"publisher","DOI":"10.1080\/16513860310003076"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.11","first-page":"93","article-title":"Waardenburg sendromu.","volume":"9","author":"Eyibilen","year":"2004","journal-title":"F\u0131rat T\u0131p Derg"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.12","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.1999.00750.x"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.13","doi-asserted-by":"publisher","DOI":"10.1159\/000310744"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.14","first-page":"65","article-title":"Waardenburg sendromu tip 1","volume":"13","author":"\u00d6zt\u00fcrk","year":"2005","journal-title":"Ret-Vit"},{"key":"2025042709504898000_2013.dec18_1.bcr2013201140.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2003.09.005"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-201140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T16:50:54Z","timestamp":1745772654000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-201140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,18]]},"references-count":15,"alternative-id":["10.1136\/bcr-2013-201140"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-201140","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,18]]}}}