Atypical Retinitis Pigmentosa With Systemic Features in Bardet–Biedl Syndrome
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.
Authors
- Sameh Shaheen (ORCID: https://orcid.org/0000-0002-1092-3496)
- Muhammad Umar Ahsan (ORCID: https://orcid.org/0009-0008-0627-2521)
- Soofia Ahmed (ORCID: https://orcid.org/0009-0004-4300-5941)
Institutions
- Allama Iqbal Medical College (PK)
- Ghazi University (PK)
- Dhaka Medical College and Hospital (BD)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1002/ccr3.71562
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00