Clinical variability of across siblings.

Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a variant by delineating the clinical presentation in two siblings.

Predictors of No-Show Status: An Analysis of Pediatric Ophthalmology Patients at an Academic Ophthalmology Department in the United States.

Purpose: To identify pediatric patient and appointment characteristics associated with no-show status at a tertiary care pediatric ophthalmology clinic within a U.S. academic ophthalmology department.