JCI table of contents: Nov. 21, 2007(rect distinct metabolic regulatory progr...),Health

AUTHOR CONTACT:

Daniel P. Kelly
Washington University School of Medicine, St. Louis, Missouri, USA
Phone: (314) 362-8908; Fax: (314) 362-0186; E-mail: dkelly@im.wustl.edu.

View the PDF of this article at: https://www.the-jci.org/article.php?id=32578

OPHTHALMOLOGY: New understanding as to why individuals with an inherited disease dont see clearly

Williams-Beuren syndrome (WBS) is an inherited disease caused by the deletion of a segment of the genome that carries more than 20 genes. Several characteristics identify individuals with WBS, including a distinctive, elfin-like facial appearance; overly friendly personalitites; a love for music; and a lack of motion and depth perception. The latter are thought to be caused by defects in the region of the brain that deals with visual information. However, Miguel Castelo-Branco and colleagues at the IBILI, Portugal, have now determined that individuals with WBS also have a developmental defect in the retina (the thin layer of neural cells that lines the back of the eyeball) and that this causes additional visual deficits.

TITLE: Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

AUTHOR CONTACT:

Miguel Castelo-Branco
IBILI, Faculty of Medicine, Coimbra, Portugal.
Phone: 351-239-480286-280; Fax: 351-239-480286-280; E-mail: mcbranco@ibili.uc.pt.

View the PDF of this article at: https://www.the-jci.org/article.php?id=32556

NEPHROLOGY: A breath of fresh air: oxygen deficiency promotes scar tissue formation in the kidneys
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