Vision outcomes in children with fetal alcohol spectrum disorders.

Background: Previous studies demonstrated that children with Fetal Alcohol Spectrum Disorders (FASD) are more likely to have vision impairments. However, existing human clinical and epidemiological investigations are few and include limited sample sizes. This study aimed to explore the association between ophthalmologic abnormalities and FASD in a sample of 5-7 year old children in the general population.

Reduced satellite cell number in situ in muscular contractures from children with cerebral palsy.

Satellite cells (SC) are quiescent adult muscle stem cells critical for postnatal development. Children with cerebral palsy have impaired muscular growth and develop contractures. While flow cytometry previously demonstrated a reduced SC population, extracellular matrix abnormalities may influence the cell isolation methods used, systematically isolating fewer cells from CP muscle and creating a biased result.

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Purpose: Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can cause visual impairment and retinal detachment at a young age. Four genes involved in the Wnt signaling pathway were previously linked to this disease: NDP, FDZ4, LRP5, and TSPAN12. Identification of novel disease-causing alleles allows for a deeper understanding of the disease, better molecular diagnosis, and improved treatment.

YAP inhibition blocks uveal melanogenesis driven by GNAQ or GNA11 mutations.

Uveal melanoma (UM) is the most common adult intraocular tumor. UM often involves activating mutations in guanine nucleotide binding protein (G protein), q polypeptide (GQ), or G Protein, α 11 (G11). We show that the Yes-associated protein (Yap) inhibitor verteporfin blocks tumor growth of Gq/11-mutated UM cells.

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.

Purpose: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 60 causative genes known to date. Nevertheless, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing genes are yet to be identified. In this study, we aimed to identify the causative mutation for a large autosomal dominant RP (adRP) family with negative results from known retinal disease gene screening.