We are pleased to announce that the next indication we will investigate with Translarna is nonsense mutation aniridia. One of the 30 publications that I referenced earlier highlighted Translarna’s ability to promote nonsense mutation readthrough in an aniridia mouse model. Aniridia the genetic disorder caused by mutations in the PAX6 gene, which occurs in about…
MUSKOGEE, Okla. — Jennifer Ratliff of Roland recently won the first place in the varsity category at the Oklahoma Regional Braille Challenge, but she has loftier goals set for her future. Source: Monday Matters: Roland Teen Aces Braille, Embraces Life | Times Record
Source: Cassville Democrat: Local News: Lions Clubs help local man (04/08/15)
With the help of a national hockey program, blind and partially sighted youths are getting a chance to skate with confidence. Source: Program teaches blind youth to play hockey | Winnipeg | News | Winnipeg Sun
Artificial iris implantation may be a standalone procedure or combined with a procedure such as cataract surgery or corneal transplantation. http://www.healio.com/ophthalmology/cornea-external-disease/news/print/ocular-surgery-news/%7Bb5a3f19a-f30a-40ca-8909-92c7fa7945a4%7D/floating-surgical-technique-secures-artificial-iris Iris tissue loss due to trauma, iatrogenic cause, or congenital absence such as aniridia or coloboma can result in photophobia, loss of depth perception, contrast sensitivity degradation, glare, decreased visual acuity and multiplopia. In…
By DIANE TURNER-HURNS Journal & Topics Reporter http://www.journal-topics.com/news/article_b5a5157c-80bb-11e4-93a6-cb03d40a4df2.html Rosemont native Mark Pishotta just finished writing a book about his 10-year-old daughter Kadina who suffers from a rare disease. “I am determined to give a voice to my daughter with this book,” Pishotta said. “Through this book I explore her world. It serves as a therapeutic…
Click the link for the video and full story http://www.9news.com.au/health/2014/12/08/18/53/australian-first-surgery-lets-woman-see-her-love-for-the-first-time-in-15-years The sight of a 60-year-old woman has been restored thanks to Australian-first surgery at Sydney Eye Hospital, allowing Marie Robinson to see her partner clearly for the first time in more than a decade. Ms Robinson and Ray Kable are high school sweethearts who have…
by Julie Tickner, Bradford Chief Reporter A SCHOOL girl will spend a day blindfolded in support of her little sister who has a rare eye condition. Bookworm Riley Blissett is most worried about not being able to read during the 12-hour fundraiser and panicked when she lost her bearings during a practice run, but…
http://www.qt.com.au/news/giving-back-after-support/2463524/ DESPITE her positive, bubbly nature, Redbank Plains toddler Paisley Mananu has by no means had an easy start to life. The two-year-old was born with aniridia and nystagmus – a genetic condition in which she suffers multiple vision problems. Fortunately, she and her family have been greatly assisted by not-for-profit organisation Vision Australia. Paisley’s…
I was just checking up on recent news related to Aniridia and found this story regarding a surgical procedure to change the color of ones iris. This is the first time that I have heard of this procedure but the article references that it could be of benefit to Aniridia Patients. I am posting it…