Study finds genetic collagen link to corneal thickness, disease
A major national and international genetic eye disease research project led by Australian researchers has identified a family of genes related to collagen that influence corneal thickness and disease risk. The cornea is the transparent outer covering of the eye.
Winthrop Professor David Mackey, Managing Director and Chair of UWA Ophthalmology, said the finding was significant because a thin cornea was one of the risk factors for keratoconus as well as glaucoma, the second leading cause of blindness overall in Australia.
Keratoconus is a thinning of the central zone of the cornea, causing the normally round shape of the cornea to become distorted and a cone-like bulge to develop, resulting in significant visual impairment.
"Keratoconus is a leading cause of severe visual impairment in young adults and the main indication for corneal transplant in most developed countries, including Australia," Professor Mackey said.
"A combination of these gene variants can result in a person having a thinner cornea and much greater risk of developing eye diseases."
Professor Mackey said while earlier, smaller studies had identified some genes for corneal thickness variation, the study published this week in the international journal Nature Genetics combined data from 20,000 people in Australia, Europe, North America and Asia in the largest analysis to date.
"These findings allow researchers to now target specific gene pathways involving collagen to help prevent and treat keratoconus and glaucoma," Professor Mackey said.
Journal reference: Nature Genetics
Provided by University of Western Australia
- Vitamin B-based treatment for corneal disease may offer some patients a permanent solution Oct 24, 2011 | not rated yet | 0
- Investigational eye treatment: Corneal collagen crosslinking research study Sep 20, 2010 | not rated yet | 0
- Gene found in humans, mice protects cornea transparency Dec 12, 2011 | not rated yet | 0
- Corneal thickness linked to early stage Fuchs' Endothelial Corneal Dystrophy Apr 09, 2012 | not rated yet | 0
- Scleral lenses benefit patients with corneal irregularities Oct 09, 2012 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers ...
Genetics May 24, 2013 | 3 / 5 (2) | 0 |
Can human genes be patented? That was the question posed by Alan J. Snyder, vice president and associate provost for research and graduate studies at Lehigh, and Lee Kaplan, scientific director of cellular and molecular genetics ...
Genetics May 24, 2013 | 4 / 5 (1) | 0
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Genetics May 22, 2013 | 4.5 / 5 (4) | 0 |
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics May 20, 2013 | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
Coenzyme Q10 decreases all cause mortality by half, according to the results of a multicentre randomised double blind trial presented today at Heart Failure 2013 congress. It is the first drug to improve heart failure mortality ...
19 hours ago | 5 / 5 (5) | 5
Heart failure accelerates the aging process and brings on early andropausal syndrome (AS), according to research presented today at the Heart Failure Congress 2013. AS, also referred to as male 'menopause', was four times ...
19 hours ago | 5 / 5 (1) | 1
(HealthDay)—Animals make great companions for senior citizens, but elderly people who always drive with a pet in the car are far more likely to crash than those who never drive with a pet, researchers have ...
11 hours ago | not rated yet | 1
(Medical Xpress)—A research team, led by Jeremy Barr, a biology post-doctoral fellow, unveils a new immune system that protects humans and animals from infection.
May 20, 2013 | 4.8 / 5 (31) | 9 |
Mortality and length of stay are highest in heart failure patients admitted in January, on Friday, and overnight, according to research presented today at the Heart Failure Congress 2013. The analysis of nearly 1 million ...
19 hours ago | not rated yet | 0
(AP)—Department of Justice lawyers have again asked a federal appeals court in New York to delay lifting age restrictions and prescription requirements on an emergency contraceptive popularly known as the morning-after ...
19 hours ago | not rated yet | 0