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Norrie disease, exudative vitreoretinopathy linked via gene
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Two inherited ocular disorders are the result of different components of a single intracellular signaling pathway that is responsible for the development of blood vessels in the eye, according to genetic researchers at Johns Hopkins University School of Medicine.
Jeremy Nathans, MD, PhD, and colleagues studied two inherited disorders, Norrie disease and familial exudative vitreoretinopathy (FEVR), whose underlying genetic defects were already known. FEVR is known to occur from a defect in a gene dubbed Frizzled-4, which codes for the Fz4 protein receptor. Norrie disease is caused by a defect in the gene for the protein Norrin.
Cell culture experiments showed the Norrin and Fz4 proteins activate a key development pathway, that, when blocked, leads to ocular abnormalities.
If reduced activity of the Norrin signaling pathway is in fact the underlying cause of the two disorders, Dr. Nathans said, a drug that increases that activity could be helpful.
The study is published in Cell.