Background/aims: To characterise the ocular manifestations of Williams-Beuren syndrome (WBS) and compare these to patients with isolated elastin mediated supravalvular aortic stenosis (SVAS).
Methods: Fifty-seven patients with a diagnosis of WBS and five with SVAS underwent comprehensive ophthalmic evaluation at the National Institutes of Health from 2017 to 2020, including best-corrected visual acuity, slit-lamp biomicroscopy, optical biometry, dilated fundus examination, optical coherence tomography and colour fundus imaging.
Results: Mean age of the 57 WBS patients was 20.
The use of aqueous film forming foams (AFFFs) as fire retardants is an critical point-source for per- and polyfluoroalkyl substances (PFASs) pollution into the aquatic environment. This study investigated PFASs pollution in the surface waters and biota (shellfish and fish) of Galveston Bay, following AFFFs use to extinguish a petrochemical fire (March 17th to 20th, 2019) of oil storage tanks at the International Terminals Company (ITC) in Deer Park (Houston, TX). The levels of up to twelve EPA priority PFASs were measured in surface waters and biota from March-November 2019.
View Article and Find Full Text PDFThe diagnosis of a heritable (Mendelian) eye condition can have a significant impact on patients and their families. Although a diverse group of conditions, many Mendelian eye conditions are early-onset, untreatable, progressive, and result in significant visual disability. To increase understanding of the challenges faced by this population, we review studies describing the psychosocial impacts of Mendelian eye conditions.
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