Dr.Y V Gowthami

None, Dr.Jeena V J

Abstract

Study Design :- Case report
Purpose:- It's a autosomal recessive disease with multisystemic involvement having a triad of cone rod dystrophy, Central obesity, postaxial polydactyl. BBS1 is common followed by BBS10 and BBS2.
METHOD:- 16yrs female presented with diminution of vision in BE since childhood with similar complaints in sibling. History of delayed Menarche
On physical examination subnormal mentality,central obesity, pigmentation over tongue, polydactyl in both upper & lower limb. Poorly developed secondary sexual characteristics.
On examination vision BE 6/24, Anterior segment examination within Normal limit. Posterior segment shows atypical retinitis pigmentosa involving macula.OCT of BE macula shows thinning.
Results :- patient had 4 primary and 2 secondary features suggestive of Bardet – Biedl syndrome.
Conclusion:- Though it's a rare disease, due to multisystemic involvement it imposes a great burden on patient & family . Early diagnosis helps to improve quality of life.