Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome.

Area of Science:

• Ophthalmology
• Genetics
• Clinical Medicine

Background:

• Bardet-Biedl syndrome (BBS) is a rare genetic disorder often presenting with retinitis pigmentosa and polydactyly.
• Atypical presentations of BBS can delay diagnosis, impacting patient management.
• Systemic examination is vital for identifying characteristic and non-classical features of BBS.

Purpose of the Study:

• To emphasize the importance of recognizing systemic features for early Bardet-Biedl syndrome diagnosis.
• To highlight non-classical findings that warrant thorough systemic evaluation in patients with retinitis pigmentosa.

Main Methods:

• Case observation and review of clinical findings in a patient with retinitis pigmentosa.
• Systematic assessment for characteristic and incidental physical anomalies.

Main Results:

• Polydactyly, a key feature of Bardet-Biedl syndrome, was identified.
• Mild, non-pitting swelling of the hands, a non-classical finding, was also observed.

Conclusions:

• The presence of polydactyly alongside retinitis pigmentosa is crucial for suspecting Bardet-Biedl syndrome.
• Thorough systemic examination, including attention to non-classical signs like hand swelling, is essential for accurate and timely diagnosis of Bardet-Biedl syndrome, especially in atypical cases.