Title:Atypical Retinitis Pigmentosa with Systemic Features in Bardet–Biedl SyndromeAuthor1-Muhammad Umar Ahsan, MBBS E-mail:umarahsan219@gmail.com Affiliation: D.G.Khan medical college, Dera Ghazi Khan, Pakistan ORCID: 0009-0008-0627-2521 2- Dr Saba Shaheen E-mail: ksaba4212@gmail.com Affiliation: Allama Iqbal teaching hospital, Dera Ghazi Khan, Pakistan 3- Somaiya Ahmed, MBBS E-mail: somaiyaahmed1996@gmail.com Affiliation: Sir Salimullah Medical College, Dhaka, BangladeshCorresponding author:Somaiya Ahmed E-mail: somaiyaahmed1996@gmail.com Affiliation: Sir Salimullah Medical College, Dhaka, BangladeshKeywords:Bardet–Biedl Syndrome; Retinitis Pigmentosa; Rod–Cone Dystrophy; Electroretinography; Polydactyly; MaculopathyKey Clinical message: Recognition of systemic features such as polydactyly and puffed hands in a patient with retinitis pigmentosa is crucial for early diagnosis of Bardet–Biedl syndrome, guiding genetic counseling and supportive care.Question: What syndromic association should be considered when a patient presents with retinitis pigmentosa and a history of polydactyly?Answer: Bardet–Biedl syndrome (BBS), a rare ciliopathy characterized by retinal dystrophy, polydactyly, obesity, renal anomalies, and developmental features. Early recognition enables genetic counseling and supportive care.
