Retinoblastoma and Children's Eyes

[Ms. Kathy]

[shadow=red,left,300]Retinoblastoma and Children's Eyes[/shadow]



Retinoblastoma is a malignant tumor on the retina, the light-sensing part of the eye, and is highly curable if treated early. This type of cancer can be present in one or both eyes.

What Causes Retinoblastoma?

Our eyes begin to develop very early in the womb. Rapidly growing cells in the eye, called retinoblasts, will eventually mature and form the retina, the light-sensing part of the eye that is located in the back of the eye. Sometimes, these specialized cells do not stop reproducing and form a tumor on the retina. These tumors may continue to grow, filling almost the entire vitreous humor (the jellylike substances the fills the eyeball). These tumors can also break off and spread to other parts of the eye, and eventually outside to lymph nodes and other organs.

Who Gets Retinoblastoma?

Retinoblastoma occurs most often in children 5 years and under. It rarely occurs in adults. Between 200 and 300 children are diagnosed with retinoblastoma each year, affecting one in every 20,000. About 40% of all cases of retinoblastoma are inherited, meaning the cancer is passed on from parent to child. Retinoblastoma occurs about 75% of the time in one eye, and 25% of the time in both eyes.

What Are the Symptoms of Retinoblastoma?

Symptoms of retinoblastoma include:

A pupil that appears white when light is shone into it, called leucocoria, may mean that a retinal tumor is present. Blood vessels in the back of the eye will normally reflect red.
The eyes may not move or focus in the same direction.
Eye pain
The pupil is constantly dilated.
Red eye(s)

How Is Retinoblastoma Diagnosed?
An eye exam and imaging test given by an eye doctor can diagnose retinoblastoma.

If retinoblastoma is suspected, an ophthalmologist will need to examine the eye using special equipment to see the retina. Other tests may be conducted to determine the stage of the retinoblastoma, or how far it has spread. These tests include ultrasound, MRI scans, CT scans, bone scans, spinal tap, and bone marrow tests.

What Are the Stages of Retinoblastoma?

Stages of retinoblastoma include:

Intraocular retinoblastoma. The earliest stage of retinoblastoma, found in one or both eyes. It has not yet spread to tissue outside of the eye.
Extraocular retinoblastoma. This type of cancer has either spread outside of the eye or to other parts of the body.
Recurrent retinoblastoma. The cancer has come back or spread in the eye or to other parts of the body after being treated.

How Is Retinoblastoma Treated?
Because it is usually found before it spreads outside of the sclera (white of the eye), retinoblastoma is highly curable. There are also many types of treatment that can save sight in the eye affected by retinoblastoma. Treatments are selected based on the stage of cancer at the time of diagnosis. Options include:

Photocoagulation. A laser is used to kill blood vessels that feed the tumor.
Cryotherapy. Extremely low temperatures are used to kill cancer cells.
Chemotherapy. Chemotherapy is a treatment given intravenously (injected into the vein), orally, or is injected into the fluid that surrounds the brain and spinal cord, called intrathecal chemotherapy. These powerful doses of cancer-killing medication help kill or slow the growth of multiplying cancerous cells.
Radiation therapy. Radiation may be given externally or internally. External-beam radiation therapy uses X-rays to kill cancer cells. Internal, or local radiation therapy, involves placing small amounts of radioactive material inside of or near the tumor to kill cancer cells.
Enucleation. Surgery to remove the eye.

What Does the Future Hold for People With Retinoblastoma?
Over 90% of children will survive more than five years after being diagnosed with retinoblastoma. Patients are able to retain about 85% of vision in the affected eye after treatment.

Hereditary forms of retinoblastoma are more likely to reoccur years after treatment; therefore, close follow-up after treatment is important for these patients.

Is Retinoblastoma Preventable?

Because heredity and age play such large roles in retinoblastoma, the best prevention is through early detection. All babies should have a general eye exam at birth and then again at six months. A doctor will be able to detect any serious congenital problems or the appearance of retinal tumors. Newborns with a family history of retinoblastoma should have a thorough eye exam a few days after birth, at six weeks, once every three months until age two, and once every four months until age three. The chance is 1 in 2 that a parent will pass on the DNA mutation that causes retinoblastoma. A blood test can be used to determine if this mutation is present.

For adults, prevention means getting a thorough regular eye examination at least once a year and more often, as recommended by your ophthalmologist, if you have a personal or family history of eye disorders or diabetes.

Also see, Protecting Your Child's Sight. Reviewed by the doctors at The Cleveland Clinic Cole Eye Institute.
Edited by Charlotte E. Grayson, MD, Oct. 2003.
Portions of this page © The Cleveland Clinic 2000-2004

[Ms. Kathy]

One of my closest former students is a retinoblastoma survivor. Doctors enucleated (surgically removed) both her eyes when she was nine months old. Fortunately medical technology has been advancing so quickly that if caught in time and depending on the tumor's location, often sight can be saved.

However, the advantages she's had in being blind from infancy is normalcy. I watched her as a little girl without light perception, use the feel of the sun on her skin to orient herself. She'd run and play on the playground with her friends. In her other classes she was rather shy, but having been a shy child myself--I knew how to bring that out of her.

When I was learning Braille, she would get behind my Brailler and read my writing up-side-down to tell me when I'd made a mistake. If you know anything about sighted people learning Braille, it becomes easier at first, to write it. Reading it back is slower as you're translating the letters and symbols back into print in your head. So to have a little proof-reader was a blessing.

She became one of the art club officers and went on to win a state office in the Youth Art Council of America. Mind you, ours was the only "special school" affiliated with this organization so she was elected by sighted peers from public, private and parochial schools all over the state.

She once remarked that we'd traveled so much that since middle school she'd been able to stay in more hotels that her mother had in her entire life.

Now she has her own apartment and works as a Braille teacher for the deaf-blind. I tell her she makes me feel old as she's supposed to be a little skinny school girl out on the playground. I get an email from her almost daily and birthdays are a big deal since school days since we have the same birth month.

I believe the only thing that she feels limited in is transportation--not being able to drive. Our state is a car state-- not known for convenient or adequate public transportation.

I've written about her here, in hopes that any parent of a child with this condition will have hope that their child can lead a fulfilled, independent life, with or without sight after surviving retinoblastoma.

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Update:
Since I first posted this she has had a baby girl who just made 2 and she caught a ride and she and the baby came to my wedding. She updtaes me with pictures of "my grand baby" via email using JAWS screenreader for the blind.

She says she is amazed at how her baby girl has already figured out "Mommy can't see me" so she sometimes plays a game of hide and seek with her. She just gets quiet and listens to where she is to find her. Funny thing is, she used to do the same to me when she was in school!

[Ms. Kathy]

Babies 'at risk of blindness'
26 July 2005
By KELLY ANDREW

Babies could be put at risk of blindness or even death because of inadequate eye screening early in infancy, a New Zealand study has found.


Nelson Hospital ophthalmologist Graham Wilson is concerned some babies are missing out on eye tests, which are supposed to be carried out at birth and at six weeks old by lead maternity carers or paediatricians.

His research in the Nelson-Tasman region showed many doctors and midwives did not perform a crucial screening test - called red reflex - correctly and did not fully understand its importance.

The screening detects conditions such as congenital cataract, which can cause blindness, and retinoblastoma, which can be life-threatening if left untreated.

Mr Wilson found that one in five practitioners involved in infant care in the region were not carrying out screening according to the Health Ministry's guidelines.

Almost a third of midwives and 16 per cent of GPs surveyed were either not doing the eye examination, which takes just a few seconds, or were doing it wrong. Eighteen per cent of doctors and 47 per cent of midwives did not understand why red reflex screening was important.

Mr Wilson began the study, published in the Journal of Paediatrics and Child Health, after becoming aware of a Nelson baby born with cataracts who was not diagnosed till aged five months. If the condition had been detected before six weeks, surgery could have saved the child's sight.

Mr Wilson said midwives were now the lead maternity carers at most births in New Zealand, with less than 50 GPs nationwide involved in obstetrics.

But many midwives felt it was not their role to test babies' eyes, or that they did not have the right training using the screening tool, an ophthalmoscope.

That meant infants who did not go to their GP for a six-week check could miss out on screening. "Babies are slipping through the system," Mr Wilson said.

Doctors and midwives needed more training and education in eye screening and this was the responsibility of district health boards.

Source: Stuff.com: www.stuff.co.nz/stuff/0,2106,3357104a7144,00.html

[Ms. Kathy]

Tyler choc full of Easter fun
Kate Jones

15apr06

TYLER Fishlock, who lost both eyes to cancer, is living life to the fullest.



The energetic three-year-old, who touched thousands of hearts with his battle against eye cancer, was back at the Royal Children's Hospital yesterday – as a visitor, not a patient.

Tyler met the Easter Bunny for a big hug and ate some chocolate eggs as he and his family joined the Good Friday Appeal celebrations.

Tyler was diagnosed with the rare eye cancer retinoblastoma in late 2004, and his left eye was immediately removed.

He waged a 15-month battle to keep his right eye – having chemotherapy and radiotherapy – but the cancer spread rapidly, and surgeons had no choice but to remove it in February.

It was a heartbreaking time for Tyler's parents, Georgette and Brad, and his sister, Madeleine, 8. But the Fishlock family credit the skilled and caring staff at the hospital with saving Tyler's life.

"We wouldn't have Tyler if it wasn't for the wonderful doctors and nurses here, " Georgette said.

"We're forever grateful and can't put into words how grateful we are that we still have our son."

Pathology tests show that Tyler is now clear of cancer, but he faces a high chance of being diagnosed with cancer when he is older.

One side-effect from Tyler's surgery is his irregular body clock. He often wakes about 3am or 4am, wanting to play with his Thomas the Tank Engine set or talk about Richmond Football Club.

Tyler's unusual waking hours are caused by a hormone imbalance, and to correct it doctors have prescribed a hormone replacement drug.





Source: © Herald and Weekly Times : www.heraldsun.news.com.au/printpage/0,5481,18816570,00.html

[Ms. Kathy]

Algae provide new clues to cancer

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Source: www.eurekalert.org/pub_releases/2006-10/si-apn101206.php#
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Contact: Gina Kirchweger
[e-mail]
858-453-4100 x1340
Salk Institute

In the unicellular green alga Chlamydomonas reinhardtii bursts of rapid division cycles produce clusters of daughter cells, a process that is controlled by the retinoblastoma (RB) tumor suppressor pathway. The...

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A microscopic green alga helped scientists at the Salk Institute for Biological Studies identify a novel function for the retinoblastoma protein (RB), which is known for its role as a tumor suppressor in mammalian cells. By coupling cell size with cell division, RB ensures that cells stay within an optimal size range.

Their findings, which will be published in the October 13 online edition of PLoS Genetics, show that RB blocks cells from dividing before they reach a minimum size and could provide new insights into the origins of cancer.

"Being the right size is very important for cells because their physiology changes quite dramatically when the surface-to-volume ratio changes," explains senior author James Umen, Ph.D., an assistant professor and Hearst Endowment Chair in Salk's Plant Biology Laboratory. "The human body is composed of trillions of cells, each of which must coordinate its growth and division in order to maintain size equilibrium," he adds.

This process is very tightly regulated and any given cell type will always stay within a very narrow size range, but the means by which cell size is determined remain mysterious. In proliferating cells, control mechanisms termed checkpoints are thought to prevent cells from dividing until they reach a specific size, but the nature of the checkpoints has proved difficult to dissect.

Understanding how cells balance the opposing processes of growth and division in order to achieve size control is more than just a fascinating intellectual pursuit for cell biologists: loss of size control is a hallmark of cancer cells, which exhibit severe defects in regulating growth and division.

"In mammalian cells it is very hard to separate size control from cell cycle control because it is very easy to mess up cell size as an indirect consequence of manipulating cell cycle rates," says Umen.

The tiny single-celled alga Chlamydomonas reinhardtii provided a model organism to study the link between cell size and growth. In nature, the organism is found in fresh and brackish water and in all kinds of soil. Its close relatives have adapted to the harsh conditions found in underwater thermal vents and even to life under the Antarctic ice shelf. In the lab, C. reinhardtii has been used to investigate agricultural, energy-related and medical questions.

Chlamydomonas is particularly well suited as an organism to dissect the control mechanisms behind cell size not only because of its simplicity but due to its peculiar cell cycle: during a prolonged growth phase cells enlarge to many times their original size and then suddenly divide several times in rapid succession. Despite this rapid-fire response, cell division is tightly controlled by a sizing mechanism that ensures daughter cells are never too large or too small.

In the course of earlier work, Umen identified an RB homolog encoded by the mat3 gene in C. reinhardtii and later discovered algal counterparts of other players in the RB pathway in humans and mice. To analyze their function in Chlamydomonas, the Salk team isolated cells with mutations in individual members of the RB signaling pathway – and things immediately started to go wrong.

Explains Umen, "Cells with mutations in the C. reinhardtii RB homolog start dividing prematurely, and continue dividing excessively, producing abnormally small daughter cells. Mutations in the algal versions of two key targets of the RB tumor suppressor have exactly the opposite effect of RB mutations, resulting in abnormally large cells that don't divide when they should." These findings demonstrate that once cells reach a critical size, they need those two RB target proteins to divide on schedule.

"The interesting thing for us is that the whole genetic module has been conserved from algae to plants to humans," says Umen. "It's been controlling cell division for well over a billion years. As multicellular organisms evolved, the RB pathway was co-opted to integrate growth factor signals, but its original purpose in single cells was more fundamental: to couple cell size to cell cycle progression," he adds.

Recently, evidence has emerged that animal cells also have size checkpoints whose nature is still unknown. "Our results open up the possibility that the ancient size control function for the RB pathway we discovered in Chlamydomonas may still be there in animal cells, but was integrated into a larger network that also responds to extracellular input from growth factors. It will be an interesting challenge now to dissect out that function for RB in animal cells," he says.

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Researchers who contributed to this study include postdoctoral fellow and first author Su-Chiung Fang, Ph.D., and laboratory assistant Chris de los Reyes.

The Salk Institute for Biological Studies in La Jolla, California, is an independent nonprofit organization dedicated to fundamental discoveries in the life sciences, the improvement of human health and the training of future generations of researchers. Jonas Salk, M.D., whose polio vaccine all but eradicated the crippling disease poliomyelitis in 1955, opened the Institute in 1965 with a gift of land from the City of San Diego and the financial support of the March of Dimes.

[Ms. Kathy]

04/03/07 - Health section
Source Link: www.dailymail.co.uk/pages/live/articles/health/healthmain.html?in_article_id=440032&in_page_id=1774

The 'strange white light' that nearly killed baby Grace

When Lisa Butler took a photograph of her six-month old daughter Grace, she noticed a strange white light in one of her eyes.


Miss Butler took her daughter to her health visitor, convinced that something was wrong. She was told her daughter?s eye was developing and there was nothing wrong.


But she was convinced that something wasn?t right - and she took Grace to see her local doctor, who referred her straight to hospital.

Grace was diagnosed with retinoblastoma - a childhood eye cancer - thanks to the photograph that saved her life.

Miss Butler, 34, a call centre operator, who lives with partner Alan Rushton, 37, who himself is an opthalmic technician, said: "We knew that something wasn't right with Grace?s eye. When we saw the white flicker in her eye on the photographs, it didn?t look right.

"Even though the health visitor said her eye was just developing, I wasn?t happy with what she had said, and finally the doctor diagnosed the cancer.

"It was lucky that we spotted the problem when we did - thanks to the photograph - as the tumour was already large behind her eye."

Grace was born on Valentine's Day 2004, weighing six pounds eleven ounces, at Hope Hospital in Manchester.


She was fine until she reached four months old - and then Miss Butler started to notice a flickering in her right eye.

She said: "It looked like a cats eye at night. I saw it again a few days later and I took Grace to see the health visitor as I was worried.

"But she told me that her eyes were still developing and it was just a reflection of the light.

"I felt a little reassurred after that - but Alan wasn?t happy. He works as an opthalmic technician, making lenses, and he wasn?t happy about her eye."

Eight weeks later the couple took the happy smiling picture of their daughter in the bath - and noticed the strange flicker again in her right eye.

They went back to the clinic and Grace was referred to an eye specialist for tests, but before they could attend the appointment, Miss Butler went to see her local doctor as Grace had also come down with a cold.

Miss Butler said: "He examined Grace and asked what was the matter with her eye. He was worried as he thought it may be a cataract. He referred us to the eye clinic at Bolton Hospital straight away.

"I was just frightened that she was going to go blind - but I never imagined it would be anything as terrible as cancer." Grace was examined at Bolton Hospital, and then she was referred to Birmingham Childrens Hospital. They telephoned Miss Butler the same day and told her that Grace had retinoblastoma, a rare childhood eye cancer.

She said: "I was so shocked I couldn?t believe what I was hearing. The flicker that we?d seen in her eye was the light reflecting off the tumour.

"We were just devastated. The consultant told us that Grace had a good chance of surviving as we had thankfully caught it early.

"But because the tumour was so big, there was no chance of saving her eye."

Tests showed that Grace had gone blind in her eye approximately at the age of five months due to the tumour growing.

Miss Butler said: "She had just adapted to it, so we hadn?t noticed her sight deteriorating.

"I?d never heard of this cancer before - so we just couldn?t believe it was happening to our daughter.

"Im just so thankful that we had that picture to warn us what was happening. If we hadn?t, then she may not have survived."

Grace underwent a three-hour operation to remove her eye in February 2005 - just after her first birthday - at Birmingham Childrens Hospital.

It was a success and she didn?t need chemotherapy as the cancer hadn?t spread.

Miss Butler said: "She recovered really well after the operation and was allowed home two days later.

"She was too little to explain to her what had happened. Because she was already blind in that eye, she didn?t really notice that it had gone. Even straight after the operation she was sat up smiling."

Grace had a false eye fitted a week after the operation and she has regular check-ups to check the cancer doesn?t appear in the other eye.

Miss Butler said: "She has made a full recovery and so far the cancer hasn?t returned. She will have a check up every few months until she is five years old.

"She?s doing really well now and we just feel so lucky that it was caught in time and we still have our daughter with us.

"I?m just so thankful that we took lots of photographs of her - it helped to save her life."

The Childhood Eye Cancer Trust is celebrating his 20th anniversary, and provides support to diagnosed families. For more information visit their website at www.chect.org.uk



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