Entries in Stargardt's Disease (3)


Miss Florida USA Contestant Is Legally Blind

Hemera/Thinkstock(NEW YORK) -- When Connor Boss looks out into the crowd this Saturday as she competes in the Miss Florida USA pageant, she will see audience members only as a blur.

Boss is the pageant's first legally blind contestant. At age 8, she was diagnosed with Stargardt's disease, a genetic disorder that causes progressive vision loss. Now 18 and soon to be a freshman at Florida State University, Boss prefers that her blindness be kept under wraps, her mother Traci Boss said.

"She doesn't want to be judged on that," Traci Boss said. "She doesn't want a sympathy vote or a pity vote. She wants to show people that she could do what anyone else does."

When glasses failed to improve Connor's deteriorating eyesight, her parents said they knew their daughter was facing an unusual challenge.

Connor still has peripheral vision, but she cannot read anything smaller than 36-point font. Throughout middle and high school, she read enlarged textbooks and had her exams read aloud to her. She struggles to make eye contact and sometimes accidentally finds herself in men's bathrooms.

At last year's Miss Florida USA contest, in which she won second runner-up in the teen category, her poor depth perception caused her to stumble on the stairs leading up to the stage during the swimsuit segment.

But beauty pageants have been a source of confidence for Connor, her mother said. At age 16, after she won the Harvest Queen pageant in Belle Glade, Fla., Connor began exercising and eating better, and before long, she entered the Miss Florida USA contest -- all without knowing for sure what she looked like.

Her biggest strength in the pageants is public speaking, Traci Boss said, in part because of the ease with which she can pretend she is speaking to herself.

Connor, who earned a 4.2 grade-point average and served as class president in high school, will not be getting any special treatment from Miss Florida USA, said pageant director Mary Lou Gravitt. The pageant has seen contestants with disabilities in the past, including speech impediments and hearing problems, Gravitt said, adding that overcoming such challenges is a "part of pageantry."

While Connor was losing her vision, though, she may have gained something else. According to Traci Boss, Connor's brain functions have heightened in response to her condition, especially her memory.

"Anything you tell her, she remembers. When she's in a lecture she remembers everything her professor said for years," Traci Boss said.

If she brings home the Miss Florida USA crown Saturday, Connor will represent the state in the Miss USA national beauty pageant.

Traci Boss said she hopes that as her daughter's story attracts attention, it will reach others with disabilities and encourage them to confront challenges.

"You hear about people who have disabilities who choose to stay home, but if they find one person who puts herself out there, they might do the same," she said.

Copyright 2012 ABC News Radio


Blindness Treatment an Embryonic Stem Cell First

Jupiterimages/Thinkstock(BOSTON) -- The first results of human embryonic stem cell therapy are in, and they look good.

Two women, 51 and 78, who were legally blind became the first patients to receive human embryonic stem cell treatment, for their condition. The treatment, also called hESC-RPE, involved scientists injecting stem cells into each patient’s eye. One woman had a condition known as Stargardt’s macular dystrophy and the other had age-related macular degeneration. Both conditions cause severe vision loss. The surgery appeared safe after four months and both women experienced an improvement in vision.

“Our study is designed to test the safety and tolerability of hESC-RPE in patients with advanced-stage Stargardt’s macular dystrophy and dry age-related macular degeneration,” the authors wrote. “So far, the cells seem to have transplanted into both patients without abnormal proliferation...or other untoward pathological reactions or safety signals. Continued follow-up and further study is needed. The ultimate therapeutic goal will be to treat patients earlier in the disease processes, potentially increasing the likelihood of photoreceptor and central visual rescue.”

Eye experts say this is an important study because it could show a promising trend in vision improvement. According to the National Eye Institute, about 1.75 million Americans currently suffer from macular degeneration, and this number is expected to grow to 2.95 million in 2020.

“Stem cell biology has an enormous potential to correct genomically derived ocular diseases, both in correcting deficiencies and amending altered anatomy and physiology,” said Barrett Katz, Frances DeJur Chair in ophthalmology at Montefiore Medical Center in New York. “The eye is the very best organ to expect such advances to be made within, as it is relatively easily accessible and immunologically privileged.”

The research, conducted at UCLA and Advanced Cell Technology in Massachusetts and published Monday in Lancet, was small in scope and population and no patients were given a placebo treatment for the sake of comparison.

For this reason, some doctors worried the report would raise hopes prematurely.

“To reach any conclusions on the safety or efficacy of two patients treated for four months without a control population for comparison is unreasonable,” said Martin Friedlander, professor of ophthalmology at Scripps Health in La Jolla, Calif. “This is why anecdotal reports like this are not published.”

“This falsely raises the hopes of millions of individuals suffering from these diseases,” he said.

The use of human embryonic stem cells has long been seen as an ethically controversial medical technology because many ague that an embryo is the earliest form of life. Extracting stem cells from that embryo almost always damages it.

But proponents of the use of human embryonic stem cells say this argument lacks validity and detracts from the medical benefits that could be achieved.

Copyright 2012 ABC News Radio


Teen Blinded by Stargardt's Disease Chases Dreams -- and Guide Dog

Courtesy Sami Stoner(LEXINGTON, Ohio) -- Ohio teen Sami Stoner loves to run.  But when a rare eye disease swiftly stole her vision, the tree-studded trails of cross country running became too dangerous to tackle.

Stoner has Stargardt's disease -- a hereditary form of macular degeneration that causes irreversible blindness.

At first, it seemed running would be yet another sacrifice for the 16-year-old, who will never be able to drive.  But she found her way back into the race with a one-and-a-half-year-old golden retriever called Chloe.

"When one door closes, another one opens," said Stoner, a high school junior in Lexington, Ohio.  "Even if you have a disability or you don't think you can do something, there's almost always a way."

Stoner met Chloe, a specially trained guide dog, in July at the Pilot Dogs facility in Columbus, Ohio.  Tethered by a sturdy harness, the pair endured four weeks of intense training -- first walking and then running under close supervision.

"I've never bonded with even a person like that," said Stoner.  "She knows she has to watch out for me.  I can't imagine being without her now."

Stoner returned to Lexington with Chloe on Aug. 17.  Although Chloe could safely guide Stoner through three miles of uneven terrain, one obstacle required outside help: Ohio High School Athletic Association rules barred Stoner from participating in cross country runs with a dog.

"There's never been a blind athlete with a dog sanctioned to compete," said John Harris, director of athletics for Lexington Local Schools.

Harris urged the association to allow Stoner and Chloe to run.  Eventually, they said yes -- with some stipulations.  Stoner has to start 20 seconds after the other runners.  And while she's allowed to pass them, and she does, she can't impede them.

With the Association's OK, Stoner and Chloe raced the following day on Sept. 17.  In three meets since, the pair has bettered their time.

Copyright 2011 ABC News Radio

ABC News Radio