DR. HARSHIKA

DR.ATUL MISHRA, DR. VEDPAL

Abstract

INTRODUCTION-Laurence Moon-Bardet Bledi syndrome Is a rare familial disorder, inherited by AR characteristic with variable penetrance and expressivity.The syndrome is characterised by five cardinal features-obesity,mental retardation, retinal degeneration,hypogonadism and polydactyly.

AIM- To report a classical case of Laurence moon bardet biedl syndrome.

METHODOLOGY-A 10yr old girl was reffered for diminution of vision since 6 months.Patient has polydactyly in both upper and left lower limb.Patient IQ was 25 Patient BMI was 28.5 kg/m2 No history of light flashes

DISCUSSION-In1920 Bardet described 3/5 cardinal features (Retinopathy,Polydactyly and Congenital Obesity) in a patient.Biedel later added 2 more features (Mental retardation and Hypogenitalism).Syndromic RP is less well documented.Classical fundus appearance of RP Includes attenuated retinal vessels, mottling and granularity of the RPE,bone spicule in mid periphery, intraretinal pigmentation, and optic nerve head pallor.