Clinical Insights into Bardet-biedl Syndrome and Retinitis Pigmentosa: A Case Report
Z.Hazil, N.Tebay, I.Hasnaoui, A.Krichen, Y.Akannour, L.Serghini, Z.Hajji, B.Ouazzani, E.Abdellah.
Ophthalmology Research: An International Journal · pp. 23–27 · Published 13 Apr 2024
10.9734/or/2024/v19i3422Abstract
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by learning impairments, obesity, post-axial polydactyly, retinal dystrophy, and hypogonadism. Numerous related minor characteristics are crucial for the clinical management of BBS and can aid in the diagnosing process. In 80% of patients, sequencing known disease-causing genes can confirm the diagnosis, which is based on clinical symptoms. BBS genes encode proteins involved in cilia biogenesis and function that localize to the basal body and cilia. Defective cilia resulting from mutations partially explain the pleiotropic effects seen in BBS. We report the case of a 23-year-old patient referred to the nephrology department for progressive bilateral visual acuity loss.
References (7)
- 1 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey [DOI]
- 2 Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse [DOI]
- 3 Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study [DOI]
- 4 Exploring the molecular basis of Bardet-Biedl syndrome [DOI]
- 5 Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome [DOI]
- 6 Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism [DOI]
- 7 New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
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