Retinitis Pigmentosa in a rare case of Bardet Beidl Syndrome

Abstract

Retinitis pigmentosa is a rod-cone dystrophy with a prevalence of 1 in 5000 with nyctalopia and loss in peripheral field of vision. In retinitis pigmentosa there is progressive loss of rod photoreceptors majorly. Bardet Beidl Syndrome [BBS] there is presentation of atypical retinitis pigmentosa. Bardet Beidl Syndrome [BBS] is a rare ciliopathic and pleiotropic condition which is an autosomal recessive genetic disorder hampering multiple organ systems. The prevalence of Bardet Beidl Syndrome is about 1 in 150000 population globally and its incidence increases in consanguineous married people. The occurrence of the syndrome is found out to be 1:1,60,000. Only 11 cases have been reported from India out of which only one had documented end stage kidney disease requiring renal replacement therapy. It affects male and female equally. There is no specific treatment for the syndrome as it is a genetic disorder but patient can be treated symptomatically. We here present a case report of 20-year-old male patient came to our OPD with complaint of increased diminution of vision having clinical findings of retinitis pigmentosa, polydactyly, central obesity with renal involvement.