Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome

Bardet-Biedl综合征伴系统性特征的非典型视网膜色素变性

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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.

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