DR. BRIJESH KUMAR KUSHWAHA

DR. DEEPAK MISHRA, DR. TANMAY SRIVASTAV, DR. MANISH KARN

Abstract

AIM: Bardet biedl syndrome is a rare, autosomal recessive ciliopathy characterized by retinal dystrophy, central obesity, post-axial polydactyly, renal dysfunctions, learning difficulties and hypogonadism. Our aim was to demonstrate similar findings in 14 year male.

METHODS: A 14 year boy presented with night blindness and decreased visual acuity in both eyes for 2 year.

RESULTS:At the initial examination, his corrected visual acuity was 6/9 in both eyes. No abnormality in the anterior segment was noted on slit lamp examination. Fundoscopic examination revealed diffuse mid peripheral bony spicules with generalized arteriolar attenuation and waxy pallor disc in both eyes. on general examination moon facies, gynaecomastia, central obesity ,post-axial polydactyly and hypogonadism were observed.

CONCLUSION:Early evaluation of this condition is necessary in initiating symptomatic management and preventive measures for the patient and the family.Multimodal approach is often required.