Retinal Findings in Bardet-Biedl Syndrome
Abstract
We report three cases of Bardet-Biedl syndrome (BBS) among which a young female and two siblings from a separate family, presented with common features of obesity, postaxial (ulnar) polydactyly, speech delay, developmental delay with learning difficulties and progressive deterioration of vision. Fundus examination revealed maculopathy and other remarkable findings in these patients. In this image of endocrinology, we describe the BBS phenotypes of these cases highlighting the fundus photography features with a plan for close follow up on obesity and endocrine complications.
Downloads
References
Schachat A, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol.1982;100:285-288. http://dx.doi.org/10.1001/archopht.1982.01030030287011.
Deveault C, Billingsley G, Duncan JL et al: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat.2011;32:610-619.
http://dx.doi.org/10.1002/humu.21480.
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet–Biedl syndrome: Results of a population survey. J Med Genet.1999;36:437-446.
Beales PL. Lifting the lid on Pandora's box: The Bardet-Biedl syndrome. Curr Opin Genet Dev.2005;15:315-323. http://dx.doi.org/10.1016/ j.gde.2005.04.006.
Elizabeth Forsythe and Philip L Beales. Bardet–Biedl syndrome. Eur J Hum Genet. 2013;21:8-13. http://dx.doi.org/10.1038/ejhg.2012.115.
Rooryck C, Lacombe D. Bardet-Biedl syndrome. Ann Endocrinol (Paris).2008; 69:463-471. http://dx.doi.org/10.1016/j.ando.2008.10.001.
Penelope P. Feuillan, David Ng, Joan C. Han, Julie C. Sapp, Katie Wetsch, Emma Spaulding et al. Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. J Clin Endocrinol Metab. 2011;96(3):528-535. http://dx.doi.org/10.1210/
jc.2010-2290.
Heon E, Westall C, Carmi R et al. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A.2005;132:283-287. http://dx.doi.org/10.1002/ajmg.a.30466.
Published
How to Cite
Issue
Section
License
Journal of the ASEAN Federation of Endocrine Societies is licensed under a Creative Commons Attribution-NonCommercial 4.0 International. (full license at this link: http://creativecommons.org/licenses/by-nc/3.0/legalcode).
To obtain permission to translate/reproduce or download articles or use images FOR COMMERCIAL REUSE/BUSINESS PURPOSES from the Journal of the ASEAN Federation of Endocrine Societies, kindly fill in the Permission Request for Use of Copyrighted Material and return as PDF file to jafes@asia.com or jafes.editor@gmail.com.
A written agreement shall be emailed to the requester should permission be granted.