Manifestations of Bardet - Biedl syndrome

ABSTRACT

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 multidisciplinary approach to treatment.