DR.VAISHALI LALIT UNE

DR. SABA PARVEEN AMANATULLAHA

Abstract

BACKGROUND: Laurence-Moon-Bardet-Biedl Syndrome is a rare autosomal recessive genetic disorder involving multiple system and has wide spectrum of clinical feature (1).We present to you two cases of Laurence-Moon-Bardet-Biedl Syndrome who come to us simultaneously at our institution , a 7 year old girl presented with c/o DOV with obesity ,mentally retarded,difficulty in learning and developmental delay. On ophthalmic examination there was bilateral alternate exotropia with high myopia with amblyopia associated with end gaze nystagmus.On fundoscopy showed evidence of RP. Similarly another 18 year old came with chief complaint of DOV with short stature and alternating exotropia with right eye dominance with nystagmus with fast component on left side and fundus RP with choroiditis.Both were given refraction and amblyopia management and regular follow up.CONCLUSION: Early diagnosis and management will help in rehabilitation of this congenital anomaly.