Nav: Home

Blindness study shows how gene causes middle-age sight loss

September 06, 2017

Blindness study shows how gene causes middle-age sight loss.

Chemical changes in the eye that can lead to blindness have been identified by scientists, a conference has heard.

Their findings aid understanding of a genetic condition that causes sight loss for one in 3,000 people in the UK. It was presented at the Eye Development and Degeneration 2017 conference in Edinburgh on Tuesday.

Scientists examined how changes in a gene known as RPGR damage eye cells to cause a disorder known as X-linked retinitis pigmentosa. The condition is incurable and affects night and peripheral vision before gradually causing blindness in middle age.

Researchers led by the University of Edinburgh took skin samples from two patients and transformed stem cells - which can change into any cell type - into light-sensing eye cells known as photoreceptors. They compared these with cells from healthy relatives of the patients.

Photoreceptors - which decay in retinitis pigmentosa patients - differed in their fundamental structure when compared with those from family members.

Follow-up studies in mice identified key molecules that interact with RPGR to maintain the structure of photoreceptors. When RPGR is flawed, the structure is compromised and photoreceptors cannot function correctly, leading to sight loss.

Dr Roly Megaw from the University of Edinburgh's Medical Research Council Institute for Genetics and Molecular Medicine, who led the study, said: "By furthering our understanding of the RPGR gene and its effects on photoreceptor cells, we hope our findings bring us closer to developing a possible treatment for this devastating disease."
-end-
The study is published in the journal Nature Communications and was carried out at the University of Edinburgh's Medical Research Council Centre for Regenerative Medicine. It was funded by the Wellcome Trust and the charity Retinitis Pigmentosa Fighting Blindness.

University of Edinburgh

Related Blindness Articles:

Study sheds light on parasite that causes river blindness
The parasite that causes river blindness infects about 37 million people in parts of Africa and Latin America, causing blindness and other major eye and skin diseases in about 5 million of them.
After blindness, the adult brain can learn to see again
More than 40 million people worldwide are blind, and many of them reach this condition after many years of slow and progressive retinal degeneration.
Risk of blindness from spine surgery down significantly
The risk of blindness caused by spinal fusion, one of the most common surgeries performed in the US, has dropped almost three-fold since the late 1990s, according to the largest study of the topic to date.
Disease that causes blindness in children tied to new gene
Northwestern Medicine and University of Wisconsin-Madison (UW) scientists have identified a gene that causes severe glaucoma in children.
Prevalence of visual impairment, blindness expected to increase in US
An aging Baby Boomer population in the US will contribute to an expected doubling of the prevalence of visual impairment and blindness in the next 35 years, according to a study published online by JAMA Ophthalmology.
Starving eye cells contribute to blindness in elders
Age-related macular degeneration (AMD) is the leading cause of visual impairment in people over 50 in developed countries.
New study: Leading cause of blindness could be prevented or delayed
In a major scientific breakthrough, a drug used to treat Parkinson's and related diseases may be able to delay or prevent macular degeneration, the most common form of blindness among older Americans.
Up to 1 billion people at risk of blindness by 2050
5 billion are expected to be myopic (short-sighted) by 2050.
Researchers study potential cures for congenital blindness
University of Akron assistant chemistry professor Dr. Adam W. Smith and his team received a grant for research that could have promising results for curing congenital blindness.
Fortified against blindness
In South Africa, sweet potatoes are a traditional crop for rural families.

Related Blindness Reading:

Blindness (Harvest Book)
by Jose Saramago (Author), Giovanni Pontiero (Translator)

A stunningly powerful novel of man's will to survive against all odds, by the winner of the 1998 Nobel Prize for Literature.

“This is a shattering work by a literary master.”—The Boston Globe

A New York Times Notable Book of the Year
A Los Angeles Times Best Book of the Year

 A city is hit by an epidemic of "white blindness" which spares no one. Authorities confine the blind to an empty mental hospital, but there the criminal element holds everyone captive, stealing food rations and raping women. There is one... View Details


Beyond the Blindness: My Story of Losing Sight and Living Life
by Ted Hinson (Author)

In this inspirational new memoir, Ted Hinson invites readers inside his head, enabling them to better understand the numerous challenges the blind face on a daily basis.

Hinson takes readers back to 1986, when he was an ambitious young husband working in the oil and gas industry in Oklahoma. He had a promising future and a one-year-old son, but when he was twenty-seven, he unexpectedly lost his sight.

Many would have been devastated by the loss, but with the support of his family and his church, Hinson summoned the strength and determination to go on. Not only was he able to... View Details


Willful Blindness: Why We Ignore the Obvious at Our Peril
by Margaret Heffernan (Author)

Why, after every major accident and blunder, do we look back and say, How could we have been so blind? Why do some people see what others don't? And how can we change? Drawing on studies by psychologists and neuroscientists, and from interviews with business leaders, whistleblowers, and white collar criminals, distinguished businesswoman and writer Margaret Heffernan examines the phenomenon of willful blindness, exploring the reasons that individuals and groups are blind to impending personal tragedies, corporate collapses, engineering failures-even crimes against humanity.

We turn a... View Details


Blindness (NYRB Classics)
by Henry Green (Author), Daniel Mendelsohn (Introduction)

Henry Green's first novel, and the book that began his career as a master of British modernism

Blindness—
Henry Green’s first novel, begun while he was still at Eton and finished before he left university—is the story of John Haye, a young student with literary airs. It starts with an excerpt from his diary, brimming with excitement and affectation and curiosity about life and literature. Then a freak accident robs John of his sight, plunging him into despair. Forced to live with his high-handed, horsey stepmother in the country, John begins a weird dalliance with... View Details


Autism as Context Blindness
by Peter Vermeulen (Author), PhD (Author)

Despite years of study and advanced technologies, we still do not fully understand how the typical brain works, much less how an autistic brain works. And while we have become increasingly familiar with the term autistic thinking, people with autism are still misunderstood, leading to frustration, depression and missed opportunities to reach one s potential. According to Peter Vermeulen, treatment of autism is still too focused on behavior and minimally focused on observation or determining the way of thinking that leads to the behavior. In this groundbreaking book, inspired by the ideas of... View Details


Notes on Blindness: A Journey Through the Dark (Wellcome)
by John Hull (Author)

Notes on Blindness was the basis for a major documentary in 2016. 'It's a gift. Not a gift I want, but it is a gift' Days before the birth of his first son, writer and academic John M. Hull started to go blind. He would lose his sight entirely, plunged into darkness, unable to distinguish any sense of light or shadow. Isolated and claustrophobic, he sank into a deep depression. Soon, he had forgotten what his wife and daughter looked like. In Notes on Blindness, John reveals his profound sense of loss, his altered perceptions of time and space, of waking and sleeping, love and companionship.... View Details


The Blindness of the Heart: A Novel
by Julia Franck (Author), Anthea Bell (Translator)

An international best seller and winner of the German Book Prize, The Blindness of the Heart is a dark marvel of a novel by one of Europe’s freshest young voices—a family story spanning two world wars and several generations in a German family. In the devastating opening scene, a woman named Helene stands with her seven-year-old son in a provincial German railway station in 1945, amid the chaos of civilians fleeing west. Having survived with him through the horror and deprivation of the war years, she abandons him on the station platform and never returns.

The story quickly... View Details


Eavesdropping: A Memoir of Blindness and Listening
by Stephen Kuusisto (Author)

A memoir of blindness and listening rendered with a poet's delight by the author of the acclaimed Planet of the Blind.

Blind people are not casual listeners. Blind since birth, Stephen Kuusisto recounts with a poet's sense of detail the surprise that comes when we are actively listening to our surroundings. There is an art to eavesdropping. Like Annie Dillard's An American Childhood or Dorothy Allison's One or Two Things I Know for Sure, Kuusisto's memoir highlights periods of childhood when a writer first becomes aware of his curiosity and... View Details


Journey into Blindness: An Inspirational Story of Overcoming Trauma and Regaining a Valuable Life
by Kent Christy (Author)

Kent Christy offers his readers the moving story of his gradual loss of vision and the trauma and emotional turmoil this caused in his life. As he notes in his introduction, going totally blind is in many ways not so different from the experience of losing a limb, developing a debilitating illness, or going through the trauma of losing a loved one, or even one’s home. A tumor found on his right optic nerve leads to the surgical removal of Kent’s eye when he is a toddler. He copes with compromised vision and a prosthesis until his “good eye” begins to fail at sixty-three, eventually... View Details


All About Color Blindness: A Guide to Color Vision Deficiency for Kids (and Grown-ups Too)
by Karen Rae Levine (Author), Frank Walls (Illustrator)

Corey, a fourth-grader, explains how his color deficiency caused problems in kindergarten. Along the way Corey learns about the special way he sees colors. His color confusion is a physical condition that many people share. It has nothing to do with how smart he is and he doesn't let it get in his way. Corey's story is followed by a simple explanation of CVD--what it is, how many people have it, how they got it, the kind of problems it might cause and suggestions about how to deal with CVD at home, at school and everywhere you go. Find out about testing for CVD too. MOM'S CHOICE AWARD, Next... View Details

Best Science Podcasts 2017

We have hand picked the best science podcasts for 2017. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Simple Solutions
Sometimes, the best solutions to complex problems are simple. But simple doesn't always mean easy. This hour, TED speakers describe the innovation and hard work that goes into achieving simplicity. Guests include designer Mileha Soneji, chef Sam Kass, sleep researcher Wendy Troxel, public health advocate Myriam Sidibe, and engineer Amos Winter.
Now Playing: Science for the People

#448 Pavlov (Rebroadcast)
This week, we're learning about the life and work of a groundbreaking physiologist whose work on learning and instinct is familiar worldwide, and almost universally misunderstood. We'll spend the hour with Daniel Todes, Ph.D, Professor of History of Medicine at The Johns Hopkins University, discussing his book "Ivan Pavlov: A Russian Life in Science."