Open AccessLaurence Moon Bardet Biedl Syndrome with Atypical Syndromic Retinitis Pigmentosa-A Rare Case Report
Author(s) -
K. EzhilVendhan,
Kamala Balakrishnan,
Aparajita Gautam,
Harshitha S Logesh
Publication year - 2021
Publication title -
scholars journal of medical case reports
Language(s) - English
Resource type - Journals
eISSN - 2347-9507
pISSN - 2347-6559
DOI - 10.36347/sjmcr.2021.v09i11.018
Subject(s) - polydactyly , retinitis pigmentosa , bardet–biedl syndrome , medicine , pediatrics , fundus (uterus) , consanguineous marriage , ciliopathy , consanguinity , ophthalmology , retinal , genetics , anatomy , biology , gene , phenotype
Laurence Moon Bardet Biedl syndrome is a rare autosomal recessive condition listed in the NORD (National Organisation for Rare Disorders) with only less than 15 cases reported all over India, affects children born to consanguineous parents. Early onset retinal dystrophy, obesity, limb abnormalities, mental retardation, hypogonadism, and renal illness being a few symptoms. Here is a case of 19-year-old male with this rare genetic disorder who presented with complaints of night blindness and defective vision since 2 years. On ocular examination both eye fundus showed atypical retinitis pigmentosa. On systemic examination patient had central obesity, polydactyly, mental retardation, hypogonadism, speech disorder, developmental delay and ataxia.