Work

Atypical Retinitis Pigmentosa With Systemic Features in Bardet–Biedl Syndrome

Year: 2025

Type: article

Abstract: Recognition of systemic features such as polydactyly in a patient with retinitis pigmentosa is crucial for early diagnosis of Bardet-Biedl syndrome. Mild non-pitting swelling of the hands-an incidental, non-classical finding-was also noted, emphasizing the importance of thorough systemic examination in atypical presentations.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71562

Authors: Muhammad Umar Ahsan, Saba Shaheen, Somaiya Ahmed

Institutions: D. G. Khan Medical College, Sir Salimullah Medical College

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820