Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Introduction: Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs.

Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.

Objective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.

A participatory study of indoor environment quality in homes of children and youth in Kanehsatake First Nation.

Indoor air quality is an important determinant for the health of children and youth, but the conditions within Indigenous communities are understudied. We collaborated with Kanehsatake First Nation in Quebec, Canada, to address this gap using a community-based participatory research approach. Levels of key indoor air indicators, including particulate matter (PM), CO, and relative humidity, were measured in 31 randomly selected households between June 2021 and January 2022.

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

The recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal 16p11.