• linkedin
  • Increase Font
  • Sharebar

    New mosaic retinitis pigmentosa mutation reported

    Investigators in Israel have discovered a retinitis pigmentosa-causing mutation for which unaffected individuals can be mosaic, followed by autosomal dominant inheritance in successive generations.

    The discovery arose out of the first ever analysis of the spectrum of rhodopsin (RHO) mutations in the Israeli and Palestinian populations, write Avigail Beryozkin of Hadassah-Hebrew University in Jerusalem, Israel and colleagues.

    They published their findings in Investigative Ophthalmology & Visual Sciences.

    A heterogeneous group of common retinal degenerations, retinitis pigmentosa affects about 1 person in 4500 in the United States and Europe, and about 1 in 2100 in the vicinity of Jerusalem, they report.

    The syndrome typically begins with loss of night and peripheral vision, and eventually leads to total vision loss in most patients.

    People inherit it in different patterns, including autosomal recessive, autosomal dominant and X-linked.

    In search of the cause, researchers first identified mutations in the RHO gene. This includes a single mutation, p.Pro23His, in a large number of American patients with autosomal dominant retinitis pigmentosa, the most common retinitis pigmentosa mutation in North America.


    You must be signed in to leave a comment. Registering is fast and free!

    All comments must follow the ModernMedicine Network community rules and terms of use, and will be moderated. ModernMedicine reserves the right to use the comments we receive, in whole or in part,in any medium. See also the Terms of Use, Privacy Policy and Community FAQ.

    • No comments available

    Latest Tweets Follow

    var script= ' ';