Dr.ASMA KHAN

Dr. PANKAJ BARANWAL

Abstract

Purpose- Bardet- Biedl syndrome is a rare autosomal recessive ciliopathy characterized by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. The purpose of this report was to reveal these features in a 16 year old girl. Methods- According to her mother, she had difficulty in seeing after evening hours. She was having some diminution of vision for few years. She underwent detailed ocular and systemic examinations. Results- The initial motor and developmental milestones were delayed. She was short for age and obese. There was postaxial polydactyly with hexadactyly of all four limbs and features of hypogonadism. Vision -6/60 OU with normal anterior segment and IOP. Fundus showed pallor of optic disc, bilaterally attenuated vessels and retinal pigmentary changes of retinitis pigmentosa “sine pigmento” variety with mild night blindness and constricted visual field. Conclusion- The diagnosis of Bardet -Biedl syndrome was made.