{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:10:02Z","timestamp":1756321802163,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"abstract":"<jats:p>A 35-year-old man with best corrected visual acuities of \u221218.00\/+10.00\u00d7180 (6\/60) OD and \u221210.00\/+8.00\u00d75 (6\/36) OS. Bilateral steep central corneal thinning, paracentral ectasia and Vogts striae were present; normal fundi. Corneal topography disclosed 7.4 dioptres of irregular astigmatism in the central 3 mm with thinning (335 \u03bcm). Electroretinography (ERG) showed no response. There were no medical or environmental influences for his keratoconus. Occurrence of keratoconus and CSNB in the patient may represent a chance association, but keratoconus has not been previously linked with CSNB1 either as a chance or true association though both show genetic predisposition.<\/jats:p>","DOI":"10.1136\/bcr.09.2008.0877","type":"journal-article","created":{"date-parts":[[2009,2,2]],"date-time":"2009-02-02T06:49:47Z","timestamp":1233557387000},"page":"bcr0920080877","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Keratoconus associated with CSNB1"],"prefix":"10.1136","volume":"2009","author":[{"given":"Dan","family":"Nguyen","sequence":"first","affiliation":[{"name":"Bristol Eye Hospital, Lower Maudlin Street, Bristol, BS1 2LX, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Hemmerdinger","sequence":"additional","affiliation":[{"name":"St Paul\u2019s Eye Unit, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Hagan","sequence":"additional","affiliation":[{"name":"Department of Clinical Engineering, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malcolm","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Clinical Engineering, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Say Aun","family":"Quah","sequence":"additional","affiliation":[{"name":"St Paul\u2019s Eye Unit, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Kaye","sequence":"additional","affiliation":[{"name":"St Paul\u2019s Eye Unit, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,9]]},"reference":[{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(86)90817-2"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-1549(03)00099-3"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1029"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.4","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0533"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.5","doi-asserted-by":"crossref","unstructured":"Heon E Musarella MA . Congenital stationary night blindness: a critical review for molecular approaches. In: Wright AF Jay B , eds. Mol Genet Inherit Eye Disord. Switzerland: Harwood Academic Chur, 1994: 277\u2013301.","DOI":"10.1201\/b14734-12"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.6","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1986.01050190071042"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.7","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.03-0251"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.8","doi-asserted-by":"publisher","DOI":"10.1038\/81619"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.9","doi-asserted-by":"publisher","DOI":"10.1038\/81627"},{"key":"2025082711355376000_2009.aug09_1.bcr0920080877.10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.27.18843"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.09.2008.0877","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:35:58Z","timestamp":1756319758000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.09.2008.0877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,9]]},"references-count":10,"alternative-id":["10.1136\/bcr.09.2008.0877"],"URL":"https:\/\/doi.org\/10.1136\/bcr.09.2008.0877","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,8,9]]}}}