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.
Authors
- Vatsala Vats
- Ashish Kumar Kakkar (ORCID: https://orcid.org/0000-0001-7768-7304)
- Priyanka Gupta (ORCID: https://orcid.org/0000-0002-9528-3191)
- Monika Jain (ORCID: https://orcid.org/0000-0002-4262-2700)
Institutions
- Himalayan University (IN)
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