Dr.SRIJITA MITRA
INTRODUCTION: Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet and intellectual impairment. Primary features include rod-cone dystrophy, polydactyly, obesity,learning disability, hypogonadism in males and renal anomalies.
MATERIALS & METHODS: A 10 year-old female child was referred to our out patient department for ophthalmic assessment. Visual acuity assessment, external photography, slit lamp examination, fundus photography was done and paediatric opinion was taken on systemic evaluation and blood investigations.
DISCUSSION: Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an inherited genetic condition that affects approximately 1 in 100,000 babies born. Genes on chromosomes 16, 11, 3, 15, and 20 have been associated with LMBBS, but their exact roles are yet to be explained.
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