{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:40:06Z","timestamp":1792806006387,"version":"4.5.0"},"reference-count":84,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:00:00Z","timestamp":1750723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus","id":[{"id":"https:\/\/ror.org\/00h25w961","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Bardet\u2013Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as emerging therapeutic approaches aimed at preserving visual function. Retinal degeneration, particularly early macular involvement and rod\u2013cone dystrophy, remains the hallmark of BBS-related vision loss. Additional ocular manifestations, such as refractive errors, nystagmus, optic nerve abnormalities, and cataracts further contribute to visual morbidity. Experimental therapies\u2014including gene-based interventions and pharmacologic strategies such as nonsense suppression and antioxidant approaches\u2014have shown promise in preclinical models but require further validation. Early ophthalmologic care, including routine visual assessments, refractive correction, and low-vision rehabilitation, remains the standard of management. However, there are currently no effective therapies to halt or reverse retinal degeneration, which underscores the importance of emerging molecular and genetic interventions. Timely recognition and comprehensive ophthalmologic evaluation are essential to mitigate visual decline in BBS. Future efforts should focus on translating these approaches into clinical practice, enhancing early diagnosis, and promoting multidisciplinary collaboration to improve long-term outcomes for patients with BBS.<\/jats:p>","DOI":"10.3390\/medicina61071135","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T06:49:38Z","timestamp":1750747778000},"page":"1135","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Ophthalmologic Manifestations in Bardet\u2013Biedl Syndrome: Emerging Therapeutic Approaches"],"prefix":"10.3390","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6340-9771","authenticated-orcid":false,"given":"Amaris","family":"Rosado","sequence":"first","affiliation":[{"name":"School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan 00936-5067, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ediel","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan 00936-5067, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalio","family":"Izquierdo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Sciences Campus, University of Puerto Rico, San Juan 00936-5067, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"R526","DOI":"10.1016\/j.cub.2009.05.025","article-title":"The primary cilium as a complex signaling center","volume":"19","author":"Berbari","year":"2009","journal-title":"Curr. 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