DR. NISHA BURA

DR. KOYEL SINHA, DR.KRISHNAPADA BAIDYA

Abstract

Bardet biedel syndrome is a rare autosomal recessive disorder characterised by retinal dystrophy, polydactyly, obesity, renal dysfunction, learning difficulties and hypogonadism. An eight year old boy presented to our ophthalmology outdoor with complaints of night blindness, and decreased visual acuity in both the eyes. On examination, his visual acuity was 20/200 in both the eyes. Anterior segment was within normal limits. Posterior segment revealed retinitis pigmentosa with mid peripheral depigmentation in both eyes. ERG showed poor waveform. Patient’s dysmorphic features included obesity, genital abnormalities and polydactyly. The details will be discussed later.