Beyond the Spicules: Atypical Retinitis Pigmentosa in Bardet-Biedl Syndrome

Abstract

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with multisystem involvement. We present the case of a 7-year-old boy who presented with photophobia and difficulty seeing in dim light. Examination revealed central obesity, bilateral post-axial polydactyly of the feet, crowded teeth, and micropenis. His best-corrected visual acuity was 6/9 in both eyes. Fundus examination showed pale optic discs and attenuated arterioles without classical bone spicule pigmentation, suggestive of retinitis pigmentosa sine pigmento. A clinical diagnosis of BBS was established based on the presence of multiple primary diagnostic features. The presence of dental and genital anomalies highlights the need for a multidisciplinary approach to diagnosis and care. This report contributes to the limited literature on BBS from India and reinforces the significance of recognizing atypical phenotypes, especially in resource-limited settings.