A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease

Abstract

This case report emphasizes the varied clinical features of Laurence-Moon-Bardet-Biedl syndrome (LMBBS) in a 10-year-old girl, presenting a rare combination of atypical retinitis punctata albescens, polydactyly, central obesity, and non-alcoholic fatty liver disease (NAFLD). Despite extensive management efforts, the patient's visual impairment remained unchanged, highlighting the challenging and progressive nature of LMBBS, particularly its ocular manifestations. Genetic counseling played a crucial role, stressing the significance of early genetic analysis in consanguineous marriages for anomaly detection and informed family planning. This case enhances our comprehension of LMBBS and emphasizes the necessity for ongoing research and multidisciplinary care to tackle its complexities.

Keywords: central obesity; genetic counseling; laurence-moon-bardet-biedl syndrome; non-alcoholic fatty liver disease (nafld); polydactyly; retinitis punctata albescens.