{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:40:11Z","timestamp":1756312811793,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,5,11]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>A male patient in his late thirties, homozygous for the M390R <jats:italic>Bardet\u2013Biedl Syndrome-1 (BBS1<\/jats:italic>) variant, began follow-up in early adulthood, due to decreased visual acuity and photophobia. Fundus examination showed bilateral temporal wedge-shaped pallor of the optic disc and atrophic maculopathy, translating into central hypoautofluorescence on fundus autofluorescence. Even though clinical and multimodal imaging features suggested cone-dominant degeneration, electroretinography (ERG) showed reduced scotopic and photopic responses, with greater scotopic impairment. Despite a thorough systemic evaluation and long-term follow-up, no other features of BBS were found. To our knowledge, this is the first documented case of non-syndromic <jats:italic>BBS1<\/jats:italic>-associated disease with a rod\u2013cone dystrophy phenotype on ERG and a clinical presentation (symptoms and imaging features) of cone-dominant disease. The discrepancy between clinical\/imaging and ERG findings reflects the complexity of <jats:italic>BBS1<\/jats:italic>-related disease and highlights the crucial role of genetic testing and comprehensive phenotyping in inherited retinal disorders.<\/jats:p>","DOI":"10.1136\/bcr-2025-264886","type":"journal-article","created":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T23:25:29Z","timestamp":1748301929000},"page":"e264886","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical-electroretinography mismatch in a patient with non-syndromic <i>BBS1<\/i>-associated retinal degeneration"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9161-2074","authenticated-orcid":false,"given":"Mariana Ferreira","family":"Francisco","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Hospitais da Universidade de Coimbra, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Raimundo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hospitais da Universidade de Coimbra, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Pedi\u00e1trico de Coimbra, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hospitais da Universidade de Coimbra, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,5,26]]},"reference":[{"key":"2025082709171740000_18.5.e264886.1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23862"},{"key":"2025082709171740000_18.5.e264886.2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12737"},{"key":"2025082709171740000_18.5.e264886.3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"2025082709171740000_18.5.e264886.4","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1038\/s41431-024-01634-7","article-title":"Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations","volume":"32","author":"Dollfus","year":"2024","journal-title":"Eur J Hum 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