Definition
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that is characterized principally by truncal obesity, rod–cone dystrophy, retinitis pigmentosa, postaxial polydactyly, male hypogonadism, complex female genitourinary malformations, and renal abnormalities and/or failure in some cases.
Etiology
Bardet–Biedl syndrome can result from mutations in at least 14 BBS genes regulating the protein expression for cilia that are involved in cell movement, perception of sensory input, and many different chemical signaling pathways.
Clinical Presentation
The retinal dystrophy appears as an atypical pigmentary retinal dystrophy of the photoreceptors with early macular involvement. One of the major features of Bardet–Biedl syndrome is vision loss from gradual retina deterioration. Problems with night vision become apparent by mid-childhood, followed by blind...
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Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet 51:132–136
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Gold, B. (2018). Bardet–Biedl Syndrome, Renal. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69000-9_1108
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DOI: https://doi.org/10.1007/978-3-540-69000-9_1108
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Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-68292-9
Online ISBN: 978-3-540-69000-9
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