Bardet Biedl Syndrome-Report of three Cases and Review of Recent Articles

Abstract

Purpose: To report three cases of a rare inherited familial disorder of Bardet-Biedl Syndrome (BBS).

Study Design: Observational case report.

Method: Two out of eight siblings presented in their second decade of life with dimness of vision in both eyes since birth. The third one is the only person of the family presented also in second decade of life with gradual blurring of vision in both eyes and outward deviation of left eye. Detail clinical history was taken. Physical, anthropometric, ophthalmic, psychological examination was done and appropriate clinical investigations were performed to exclude other systemic disorder. Review of recent literatures was done.

Result: First two cases were brothers, who were mentally retarded child with delayed developmental mile stone. They were short, obese and had polydactyly, gynecomastia, hypogonadism. Their vision was poor and had retinitis pigmentosa with optic atrophy. The third one was also mentally retarded and had polydactyly, trunkal obesity, atypical retinitis pigmantosa with optic atrophy. They did not had deafness or any systemic abnormalities. Depending on clinical findings they were diagnosed as a case of BBS.

Conclusion: The retinitis pigmentosa in BBS is progressive and visual loss can not be halted. So proper rehabilitation and counseling is only the way to help the BBS child and to protect them from being social burden.