DR. DEEPIKA C P

DR. SUBHADRA JALALI

Abstract

Purpose: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-Biedl (LMBB) syndrome patients.

Methods: Cross-sectional observational study between March 2012 and October 2020.

Results: There were 244 patients in total, with hospital-based prevalence rate of 0.010% or 1,000/100,000 population. The mean and median age of patients was 15.22 ± 7.56 and 14 (IQR: 10-18.5) years respectively with majority being in the age group of 11-20 years (133/244 patients; 54.50%). Males were more commonly affected 164 patients (67.21%). More than one-fourth of the patients had severe visual impairment to blindness at presentation.

Conclusion: It is important to rule out LMBB syndrome in early onset RP with central visual acuity impairment. On the other hand, all patients diagnosed with LMBB syndrome systemic features at physician clinic should also be referred for ophthalmic evaluation, low vision assessment, and rehabilitation.