{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T04:29:17Z","timestamp":1684902557940},"posted":{"date-parts":[[2023,2,7]]},"group-title":"In Review","reference-count":17,"publisher":"Research Square Platform LLC","license":[{"start":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T00:00:00Z","timestamp":1675728000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2022,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n        <jats:p><jats:italic><jats:bold>Introduction:<\/jats:bold><\/jats:italic> Bardet-Biedl syndrome (BBS) is ciliopathy characterized by retinal degeneration, truncal obesity, post-axial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities (e.g., renal cysts). BBS has an autosomal recessive inheritance pattern, and the most common disease-causing gene is <jats:italic>BBS1<\/jats:italic>, with M390R being the most prevalent mutation. Retinal degeneration in BBS is usually a rod-cone degeneration. Nevertheless, phenotypic variability exists, and cone-rod degeneration has also been reported in <jats:italic>BBS1<\/jats:italic>-related disease, as well as non-syndromic retinitis pigmentosa (RP). We present a case of a patient with homozygous M390R mutations and non-syndromic cone-predominant retinal degeneration.\n<jats:italic><jats:bold>Methods<\/jats:bold><\/jats:italic><jats:bold>: <\/jats:bold>Case-report conducted at a tertiary-care academic hospital.\n<jats:italic><jats:bold>Results<\/jats:bold><\/jats:italic><jats:bold>: <\/jats:bold>A 36-year-old male patient with homozygous M390R <jats:italic>BBS1<\/jats:italic> mutations and no family history of retinal disease or consanguinity began follow-up at age 19, after noticing photophobia. Best-corrected visual acuity (BCVA) was 20\/32 OD and 20\/25 OS. The fundus showed bilateral temporal wedge-shaped pallor of the optic disc and atrophic maculopathy with foveal depigmentation, which translated to hypoautofluorescence on fundus autofluorescence (FAF). Electroretinography revealed cone-rod dysfunction and center-involving maculopathy. Seventeen years later, BCVA was 20\/100 OD and 20\/80 OS, and the fundus changes overlapped those at baseline. Nevertheless, a slight enlargement of the atrophic lesions was observed on FAF. Despite a thorough systemic evaluation, including abdominal and renal ultrasound, no other major or secondary features of BBS were found.\n<jats:italic><jats:bold>Discussion<\/jats:bold><\/jats:italic><jats:bold>: <\/jats:bold>To the extent of our knowledge, this is the first reported case of non-syndromic cone-predominant retinal degeneration in a patient harboring homozygous M390R <jats:italic>BBS1<\/jats:italic>mutations.<\/jats:p>","DOI":"10.21203\/rs.3.rs-2383280\/v1","type":"posted-content","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T15:54:45Z","timestamp":1675785285000},"source":"Crossref","is-referenced-by-count":0,"title":["Non-Syndromic Cone-Predominant Retinal Degeneration Associated with Homozygosity for the M390R Mutation in BBS1 Gene"],"prefix":"10.21203","author":[{"given":"Emmanuel Rebelo","family":"Neves","sequence":"first","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)"}]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Clinical Academic Center of Coimbra (CACC)"}]},{"given":"Miguel","family":"Raimundo","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)"}]},{"given":"Joaquim Neto","family":"Murta","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)"}]},{"given":"Jorge","family":"Saraiva","sequence":"additional","affiliation":[{"name":"Clinical Academic Center of Coimbra (CACC)"}]},{"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)"}]},{"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC)"}]}],"member":"8761","reference":[{"issue":"11","key":"ref1","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1002\/humu.23862","article-title":"Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes","volume":"40","author":"Niederlova V","year":"2019","unstructured":"Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O. 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