Bardet Biedl Syndrome in All Siblings – A Rare Case Report

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Published

2024-11-29

DOI:

https://doi.org/10.56692/upjo.2024120208

Keywords:

Familial Bardet Biedl syndrome, Hypogonadism, Mental retardation, Moon-like facies, Polydactyly, Retinal dystrophies.

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Issue

Vol. 12 No. 02 (2024): UP Journal of Ophthalmology

Section

Case Report

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

© UPJO, 2023 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by-nc-sa/4.0/.

Authors

  • Priyanka Gupta Department of Ophthalmology, Shri Guru Ram Rai Medical Collage, Dehradun, Uttrakhand, India.
  • Monika Jain Department of Ophthalmology, Shri Guru Ram Rai Medical Collage, Dehradun, Uttrakhand, India.
  • Vatsala Vats Department of Ophthalmology, Shri Guru Ram Rai Medical Collage, Dehradun, Uttrakhand, India.
  • Ashish Kakkar Department of Ophthalmology, Shri Guru Ram Rai Medical Collage, Dehradun, Uttrakhand, India.

Abstract

Bardet Biedl Syndrome (BBS) is autosomal recessive ciliopathy. Presenting features comprise mainly retinal dystrophy, central obesity, polydactyly, mental retardation and infertility. The patient is not socially acceptable for this disease. Symptomatic rehabilitation is the only way to provide quality of life to these patients. Limited cases have been reported with the involvement of two or more siblings. Three siblings reported to our OPD with diminution of vision and mental retardation. On evaluation, all siblings met the diagnostic criteria of BBS. A multidisciplinary approach was taken for their needful rehabilitation.

How to Cite

1.
Priyanka Gupta, Jain M, Vats V, Kakkar A. Bardet Biedl Syndrome in All Siblings – A Rare Case Report. UPJO [Internet]. 2024 Nov. 29 [cited 2024 Dec. 26];12(02):56-9. Available from: https://upjo.org/index.php/upjo/article/view/549

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