Simultaneous presentation of idiopathic uveitis in monozygotic 4-year-old twin boys.

Purpose: To report monozygotic twin 4-year-old boys with chronic bilateral anterior uveitis with simultaneous onset. Observations: Here we report monozygotic twin 4-year-old boys with chronic bilateral anterior uveitis. The boys had simultaneous onset of uveitis and identical features. Evaluation, including whole exome sequencing (WES), failed to reveal a specific causative etiology. Each patient responded well to immune modulation and achieved uveitis remission on methotrexate monotherapy off topical glucocorticoids. Conclusions and Importance: From this case of monozygotic twin boys presenting with chronic uveitis, we conclude that monozygotic twins may warrant evaluation in the setting of idiopathic uveitis, especially in young patients unable to express an adequate history.

Does cardiology hold pharmacogenetics to an inconsistent standard? A comparison of evidence among recommendations.

Current guideline recommendations for pharmacogenetic testing for clopidogrel by the American Heart Association/American College of Cardiology (AHA/ACC) contradict the Clinical Pharmacogenetics Implementation Consortium and the US FDA. The AHA/ACC recommends against routine pharmacogenetic testing for clopidogrel because no randomized controlled trials have demonstrated that testing improves patients' outcomes. However the AHA/ACC and the National Comprehensive Cancer Network (NCCN) recommend other pharmacogenetic tests in the absence of randomized controlled trials evidence. Using clopidogrel as a case example, we compared the evidence for other pharmacogenetic tests recommended by the AHA/ACC and NCCN. In patients that received percutaneous coronary intervention, the evidence supporting pharmacogenetic testing for clopidogrel is stronger than other pharmacogenetic tests recommended by the AHA/ACC and NCCN.

Ocular manifestations of the Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive. The literature was reviewed to define the reported spectrum of ocular manifestations, which are not well documented. We found that nasolacrimal system malformations are a common feature of Johanson-Blizzard, whereas intraocular malformations are rare. This report describes the ophthalmologic findings and management of 2 affected children.