Manifestations of Bardet-Biedl syndrome

Kristine T. Lo, MD; Juancho Remulla, MD; Alvina Pauline Santiago, MD

Authors

Kristine T. Lo, MD Department of Ophthalmology and Visual Sciences University of the Philippines Philippine General Hospital Manila, Philippines Author
Juancho Remulla, MD Department of Ophthalmology and Visual Sciences University of the Philippines Philippine General Hospital Manila, Philippines Author
Alvina Pauline Santiago, MD Department of Ophthalmology and Visual Sciences University of the Philippines Philippine General Hospital Manila, Philippines Author

Keywords:

Bardet-Biedl syndrome, Retinitis pigmentosa, Polydactyly, Hypogenitalism

Abstract

Objective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital.

Methods: This is a case report.

Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manifestations of the disease: retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities, hypogenitalism, and renal dysfunction.

Conclusion: Bardet-Biedl has ocular and systemic manifestations requiring a multi-disciplinary approach to treatment.