Dr.Meenakshi Vepa, Dr.Vanisri Tipirineni, Dr.Venkata Ramana Adapa

Abstract

INTRODUCTION:very rare ciliopathy of protean presentation with recurrent retinal&renal dysfunction.India 1:1,60,000 incidence.Beales criteria–4/6 PF r 3/6 PF+2 of the SF
Primary features(PF)
Rod-cone dystrophy,Obesity,Polydactyly,Learning disabilities,Hypogonadism,Renal anomalies
Secondary features(SF)
Speech disorder;squint/cataracts/astigmatism;Syndactyly;Developmental delay; Neurogenic DI,DM;Dental crowding
CASE PRESENTATION:case of BBS who came to OPD of Dr.RSPR GREH VSP for SADAREM certificate with a chief complaint of Loss of vision,insidious onset&dramatically progressed to total loss of vision in 6yrs
Visual acuity OU-no PL;A/S-OD 15° Exotropia;OU-Nystagmus,Clear Cornea,VH4 AC,Sluggish pupils&PSCC lens
Fundus-pale atrophic disc,marked arteriolar attenuation,bony spicules all over retina=Rod-Cone dystrophy.Consecutive OA.Obesity,CKD G3b,hypothyroidism,polydactyly;4-SF.Given conservative Rx
Conclusion:Illustrating c/f &diagnosis of Bardet Biedl syndrome with Retinitis pigmentosa