gene behind turned eyes uncovered - centre for eye ... · debunking cataract myths it’s one of...
TRANSCRIPT
In this issue:
Revolutionary new treatment to
fi ght bacterial infections
Retina reveals silent brain damage
Debunking cataract myths
Become a CERA Sight Saver
ISSUE 28 NOVEMBER 2010
GENE BEHIND TURNED
EYES UNCOVERED
CERA researchers have uncovered one of the genes responsible for strabismus that could lead to new treatments and ways to prevent the condition.
Strabismus – the condition that causes ‘turned’ or ‘crossed’ eyes – affects one in 50 Australians and is the most common eye disorder in children.
Dr Jon Ruddle of CERA’s Clinical Genetics Unit said the TUBB3 gene discovery debunked the common misconception that strabismus is a muscle disorder and not a nerve disorder.
“The TUBB3 gene drives the development of the nerves that control the eye muscles. Strabismus occurs when mutations in the TUBB3 gene cause the abnormal development of these nerves,” Dr Ruddle said.
“We also found that the mutations can interfere with the brain’s ability to wire up properly which, in severe cases, can lead to intellectual, behavioural and social disabilities.”
The discovery is exciting news for sufferers, who can experience low vision and psychosocial problems, including teasing and low self esteem.
Kim Jasper was shocked when her 18-month-old son, Jack, developed a turn in one eye, seemingly overnight.
“Jack woke up one morning looking a bit odd and we realised his right eye was turning inwards. He’d always had perfect vision and he hadn’t had any recent accidents, so it was a real shock,” Kim said.
An ophthalmologist diagnosed Jack, now four, with strabismus.
GENE BEHIND TURNED
EYES UNCOVERED
CENTRE FOR EYE RESEARCH AUSTRALIA
Above: Four-year-old Jack Jasper pictured with mum Kim
“Luckily Jacks vision remained intact, so we were mainly concerned about the cosmetic effect and how this might impact on his self esteem,” Kim said.
In July last year, Jack underwent a successful operation to straighten the muscles in his right eye. Recently Jack underwent a second corrrective operation.
“ He looks like his old self and the turn is only noticeable when he’s tired at the end of a long day,” Kim said.
“Jack’s more confi dent now. His kinder teacher noted that because Jack no longer looks differ-ent, children seem to open up to him more.”
According to Dr Jon Ruddle, Jack is fortunate he has only required two operations and the condition has had no long term effect on his vision.
“Some children undergo numerous operations and even then the turn can be quite noticeable,” Dr Ruddle said.
“With a better understanding of nerve development and its affect on the eye muscles, we can explore new treatments that we hope will lead to better vision and cosmetic outcomes for affected individuals.” •
3VISION NEWS NOVEMBER 2010
Facts about strabismus:
Strabismus is the most common eye disorder in children
It’s commonly caused by abnormalitiesin the eye muscles or the nerves that
control these muscles
Risk factors include a family history of the condition, long-sightedness
and low vision
Vision problems caused bystrabismus can be prevented
if treated early
VISION AUSTRALIA
RADIO TUNES
INTO EYE HEALTH
Vision Australia Radio has
launched the CERA Research
Round-Up, a regular segment
to profi le the latest news.
Hosted by Robyn Winslow, the regular segment features interviews with CERA researchers and ophthalmologists.
The Vision Australia Radio network incorporates eight stations throughout Victoria and southern New South Wales. The networks programs are designed for people who cannot read media. More than 100,000 people tune into the network each week, many of whom are blind or have low vision.
CERA Research Round-Up airs fortnightly at 9:30am on Tuesdays. •
To stream Vision Australia Radio online
or fi nd out your local frequency,
visit www.visionaustralia.org.au
To donate to the Gerard Crock
Fellowship, contact 1300 737 757
or visit www.cera.org.au
BLIND AMBITION
Clinician-scientist Dr Paul Connell
is investigating new drug delivery
techniques for patients with conditions
affecting the back of the eye.
CENTRE FOR EYE RESEARCH AUSTRALIA
An enthusiasm for continuous development led the Irish-born and educated ophthalmologist to Australia, where he was awarded the prestigious Gerard Crock Fellowship at CERA.
Dr Connell is investigating a world-fi rst treatment for bacterial endophthalmitis which he hopes will be modifi ed to treat other eye diseases. Endo-phthalmitis is a sight-threatening complication of some eye operations. It occurs when bacteria enters the eye and causes infection.
Multiple treatments such as drops, injections and even further surgery are used to treat this condition.
The potential solution, says Paul, is a small implant containing antibiotic that can be inserted into the eye during or after surgery.
“The implant delivers the antibiotic continuously over a set period of time, removing the need for other post-operative treatments and eliminating
the diffi culty some patients face when applying drops,” Dr Connell said.
“It can be comfortably fi tted into the eye and is designed to degrade and disappear over time,” he said.
The implant, to be trialled as early as 2011, has the potential to revolutionise the treatment of eye disease.
“It’s hoped the technology will eventually be modifi ed to treat other ocular diseases that require regular therapy, such as AMD and glaucoma,” Dr Connell said.
To conduct the project, CERA is collaborating with the Bionic Ear Institute and PolyActiva. The project is funded by the National Health and Medical Research Council. •
The Gerard Crock Fellowship was established in 2003 to honour the memory and contribution of Professor Gerard Crock AO, Australia’s fi rst professor of ophthalmology. Designed in consultation with Professor Crock, the Fellowship supports promising ophthalmologists, who have completed post-doctoral appointments overseas, to pursue research at CERA.
The inaugural Gerard Crock Fellow, Dr Lyndell Lim, was appointed in 2006. She returned to Melbourne from a postdoctoral appointment in Portland, Oregon. Dr Lim’s Fellowship appointment concluded in 2009 and she continues to conduct research at CERA. Dr Paul Connell was appointed as the second Gerard Crock Fellow in 2009.
The Fellowship is offered in conjunction with another generously endowed award. •
FELLOWSHIP REWARDS SCIENTIFIC TALENT
A Fellowship designed to attract talented clinician-scientists, is helping
to strengthen Australia’s reputation as a leader in science and innovation.
DEBUNKING CATARACT MYTHS It’s one of the most common eye problems worldwide and affects
almost every Australian in their lifetime. Despite this, the facts
about cataract are often blurred says CERA Managing Director
Professor Jonathan Crowston.
Myth 1: Cataract is a growth on the eye
This is a common myth, says Professor Crowston. “A cataract isn’t a growth or fi lm over the eye but a clouding of the normally clear lens inside the eye. The clouding causes poor vision and can be compared to looking through a frosted window,” he said.
Myth 2: Cataracts can spread from one
eye to another
According to Professor Crowston, cataracts can develop in one or both eyes.
“Cataract cannot spread from one eye to the other. In most cases, cataracts develop slowly and often at a different rate in each eye. Most cataracts associated with aging will develop gradually over time.”
Myth 3: Young people can’t develop cataract
“Cataracts develop as a normal part of the aging process and are most common in people over 60, however, they can also occur in young people,” says Professor Crowston.
“Cataracts in the young usually occur as a result of diabetes or steroid use. In rare cases, babies can be born with cataracts. This is known as congenital cataract.”
Myth 4: Cataracts can return
after surgery
Surgery is the only way to remove a cataract and once it’s been removed it cannot return, says Professor Crowston.
In some cases, the capsule bag that holds the lens in place can become cloudy after surgery and this can be repaired using laser treatment.
Myth 5: Cataract can cause irreversible
blindness
“Thankfully this is another common myth. In reality, almost all vision loss caused by cataract is treatable,” says Professor Crowston.
According to Professor Crowston, cataract formation affects only the lens of the eye and not the other important structures, such as the cornea, iris, or optic nerve. Therefore surgery will usually result in improved vision.
“Cataract removal is one of the most common surgical procedures performed in Australia,” says Professor Crowston. “In people with healthy eyes, cataract surgery will typically restore good vision.”
But not all cataracts will require surgery. “If a person’s symptoms are mild and their vision remains largely intact, a change of glasses may be all that is required.” •
5VISION NEWS NOVEMBER 2010
A CERA study has revealed that retinal imaging is capable of detecting silent brain infarcts, also known as ‘mini-strokes.’
Silent brain infarcts are caused by blocked blood supply to the brain. The damage, which is linked to an increased risk of stroke and dementia, has no symptoms and, until now, could only be detected using magnetic resonance imaging (MRI).
The ten year study found that people with abnormalities in the retina, located at the back of the eye, are two to three times more likely to experience silent brain infarcts within a ten year period than people without abnormalities.
Research Fellow Dr Cheung said the fi ndings suggest that a person’s risk of developing silent brain infarct, and its associated conditions, could be assessed using retinal imaging.
“Until now, there’s been no easy way to evaluate the likelihood that a person will develop ‘silent’ brain infarct,” Dr Cheung said.
“ We’ve discovered a unique, non-invasive way to view the health of the brain and detect damage before it shows up on brain scans or causes clinical symptoms.”
Dr Cheung hopes that one day, this simple test will be readily available to people who are at a high risk of stroke and dementia.
“The test could be an early warning to people with retinal abnormalities to better control risk factors like smoking, hypertension, diabetes and cholesterol, to help prevent silent brain infarct,” Dr Cheung said. •
WINDOWS TO THE BRAIN
CERA researchers have discovered a
way to check the health of a person’s
brain by looking deep into the eyes.
CENTRE FOR EYE RESEARCH AUSTRALIA
Above: CERA Research Fellow, Dr Danny Cheung
CERA EVENTSBionic Eye Public Lecture
A sell-out crowd gathered at the State Library of Victoria in June to hear Professor Robyn Guymer present the 2010 Gerard Crock Lecture: Seeing is believing: the challenge and promise of the Bionic Eye.
Professor Guymer refl ected on the research challenges of developing a bionic eye and the promise it holds for restoring sight. She is CERA’s Principal Investigator on the Bionic Vision Australia research collaboration.
Download the lecture at www.cera.org.au
CERA Scientifi c Exchange
Exceptional CERA staff and students were recognised at the CERA Scientifi c Exchange. The event showcased current research programs and introduced CERA’s talented researchers to stakeholders and friends of CERA.
Ophthalmologist conquers the Kimberley
Ophthalmologist Peter Van Wijngaarden raised more than $30,000 for CERA in a race across 250 kilometres of the Kimberley’s toughest terrain.
Racing The Planet is an endurance competition where competitors run, climb and swim to reach the fi nish line. Participants must carry their own equipment and food in temperatures exceeding 45 degrees.
Peter came forth in the seven day Australian leg of the event. Money raised will support CERA’s sight-saving research programs. •
7VISION NEWS NOVEMBER 2010
Ms Rita Andre
Mr D.R. Bridges
Mrs June Danks
Mr Brett Davies
The Kornhauser Family
Mr Anker Hung
Mr & Mrs Roderick & Margaret MacDonald
Associate Professor Hector Maclean
Mrs Tina McMeckan
Dr’s Mark & Alla Medownick
Mr Andrew G Michelmore
Mr Basil M Moss MBE
Ms Mary O’Sullivan
Miss Loris Peggie
Mrs Margaret Rafferty
Mrs Margaret S Ross AM
Ms Joan Spiller
Mr Ian Stewart
Mrs Jean Thomas
Dr & Mrs Brendan & Michelle Vote
Dr Andrew Walpole
Mr & Mrs John & Marie Warnock
Mr & Mrs Stephen & Brenda Wellard
Dr Mary E Xipell
The following supporters made a generous gift between May and October 2010.
THANK YOU TO CERA’S
MAJOR SUPPORTERS
As summer approaches, Professor Jonathan Crowston reminds us that it’s important to protect our eyes from harmful UV rays.
“We all know about the dangers of exposing our skin to the sun but it’s important not to overlook our eyes,” Professor Crowston said.
“UV exposure can have short and long term effects on the eyes”.
“Short-term exposure can cause sunburn of the cornea and impaired vision.”
“But the real concern is the cumulative effect of exposure which can lead to the early onset of cataracts, the yellow-white growths on the eye known as pterygium, and even retinal damage.”
Professor Crowston said that our increased life expectancy means protecting our eyes is more important than ever.
“The risk of developing an eye condition increases dramatically with age,” Professor Crowston said.
“The prevalence of cataract increases from just 5 per cent in people aged 40-49 to 85 per cent in those aged 80-89. Given that the rate of cataract surgery doubles with each decade of life, delaying the onset of cataract by just 10 years would reduce the need for surgery by half.”
“This should act as a very strong incentive to protect your eyes for the future.”
Royal Victorian Eye and Ear Hospital Level 1, 32 Gisborne Street, East Melbourne VIC 3002Telephone: 1300 737 757 Email: [email protected]
www.cera.org.au
PROTECT YOUR EYES
THIS SUMMER
Tips to protect your
eyes from sun damage:
Always wear sunglasses in the sun, especially during times of high UV exposure.
Choose sunglasses that meet the Australian Standard AS 1067. This will
ensure 95 per cent of UV radiation is blocked.
Encourage kids to be sun-smart and teach them about the dangers
of looking into the sun.
A broad-brimmed hat will protect faces and eyes.