Volume : IX, Issue : VII, July - 2019

A rare Case of Laurence–Moon Bardet – Biedl Syndrome

Dr. Samreen Mehfooz, Dr. Neelima Mehrotra, Dr. Amrita Bajpai, Dr. Akhil Agarwal, Dr. Aishwarya Madharia, Dr. Manmeet Singh

Abstract :

METHODS : A 15 years old female was ought with chief complaints of diminution of vision both eyes since birth. On ocular examination patient had torsional nystagmus of low amplitude and moderate frequency. Rest of the anterior segment was within normal limits. Fundus examination revealed normal optic disc with few bony spicules in mid peripheral retina with macular lesions and atrophy of RPE in both eyes RESULTS : On general examination patient had Mental retardation and polydactyly in all 4 limbs. BMI was 32kg/m2 suggestive of obesity. There was history of delayed attainment of milestones with gross developmental delay. Patient gives no history of attainment of menarche . Urine routine and microscopy was within normal limits. USG abdomen was suggestive of hypoplastic uterus. Patient was diagnosed with Laurence–Moon–Bardet–Biedl syndrome. No treatment is currently known for the retinal degeneration associated with this syndrome

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

A RARE CASE OF LAURENCE-MOON BARDET‾BIEDL SYNDROME, Dr. Samreen Mehfooz, Dr. Neelima Mehrotra, Dr. Amrita Bajpai, Dr. Akhil Agarwal, Dr. Aishwarya Madharia, Dr. Manmeet Singh INDIAN JOURNAL OF APPLIED RESEARCH : Volume-9 | Issue-7 | July-2019

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