Bardet Biedl Syndrome in All Siblings – A Rare Case Report

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.

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Publication Details

Journal
UP Journal of Ophthalmology
Published
2024-11-29
DOI
https://doi.org/10.56692/upjo.2024120208
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Bardet Biedl Syndrome in All Siblings – A Rare Case Report

Vatsala Vats, Ashish Kumar Kakkar, Priyanka Gupta, Monika Jain
UP Journal of Ophthalmology
Genetic and Kidney Cyst Diseases
article

Bardet Biedl Syndrome in All Siblings – A Rare Case Report

Vatsala Vats, Ashish Kumar Kakkar, Priyanka Gupta, Monika Jain
article en

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.

UP Journal of OphthalmologyVol. 12(02)
Himalayan University (IN)
Openalex Percentile: Top 73%
Genetic and Kidney Cyst Diseases
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