Study finds genetic collagen link to corneal thickness, disease

January 8, 2013
Study finds genetic collagen link to serious eye 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 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 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.

Explore further: Vitamin B-based treatment for corneal disease may offer some patients a permanent solution

Related Stories

Vitamin B-based treatment for corneal disease may offer some patients a permanent solution

October 24, 2011
Patients in the United States who have the cornea-damaging disease keratoconus may soon be able to benefit from a new treatment that is already proving effective in Europe and other parts of the world. The treatment, called ...

Gene found in humans, mice protects cornea transparency

December 12, 2011
A transparent cornea is essential for vision, which is why the eye has evolved to nourish the cornea without blood vessels. But for millions of people around the world, diseases of the eye or trauma spur the growth of blood ...

Corneal thickness linked to early stage Fuchs' Endothelial Corneal Dystrophy

April 9, 2012
A national consortium of researchers has published new findings that could change the standard of practice for those treating Fuchs' Endothelial Corneal Dystrophy (FECD), a disease characterized by cornea swelling that can ...

Scleral lenses benefit patients with corneal irregularities

October 9, 2012
(Medical Xpress)—A UC Davis Health System Eye Center study found that scleral lenses, which rest beyond the limits of the cornea and cover the white part of the eye (sclera), were a good alternative for patients with corneal ...

Recommended for you

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.