Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II

Abstract

Purpose: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence–Moon–Bardet–Biedl (LMBB) syndrome patients. Methods: This is a cross-sectional observational hospital-based study wherein 244 patients with RP in LMBB syndrome presenting to our hospital network between March 2012 and October 2020 were included. An electronic medical record database was used for data retrieval. Results: There were 244 patients in total, with a hospital-based prevalence rate of 0.010% or 1000/100,000 population. The mean and median age of patients was 15.22 ± 7.56 and 14 (IQR: 10–18.5) years, respectively, with the majority being in the age group of 11–20 years (133/244 patients; 54.50%). Males were more commonly affected (164 patients; 67.21%), and the majority (182 patients; 74.59%) were students. All 244 patients (100%) complained of defective central vision at presentation. More than one-fourth of the patients had severe visual impairment to blindness at presentation. Prominent retinal feature at presentation was diffuse or widespread retinal pigment epithelial degeneration in all patients. Conclusion: Patients with RP in LMBB syndrome present mainly in the first to second decade of life with severe visual acuity impairment to blindness early in life. It is important to rule out LMBB syndrome in early-onset RP with central visual acuity impairment. On the contrary, all patients diagnosed or suspected with LMBB syndrome systemic features at physician clinic should also be referred for ophthalmic evaluation, low vision assessment, rehabilitation, and vice versa.

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

“…The early onset and severity of retinal degeneration contribute significantly to the morbidity associated with the syndrome. However, the present case introduces an atypical retinal manifestation, retinitis punctata albescens, emphasizing the diversity of ocular phenotypes within LMBBS [ 7 ]. Metabolic complications, including dyslipidemia and non-alcoholic fatty liver disease (NAFLD), have been reported in individuals with LMBBS.…”