Genotyping IDs long-term risk of macular degeneration

November 13, 2012
Genotyping IDs long-term risk of macular degeneration
Genotyping of two genetic risk alleles can be used to estimate the long-term risk of early and late age-related macular degeneration (AMD), but knowing the phenotype is important in assessing risk when early AMD is present, according to a study published online Nov. 9 in the Archives of Ophthalmology.

(HealthDay)—Genotyping of two genetic risk alleles can be used to estimate the long-term risk of early and late age-related macular degeneration (AMD), but knowing the phenotype is important in assessing risk when early AMD is present, according to a study published online Nov. 9 in the Archives of Ophthalmology.

Ronald Klein, M.D., M.P.H., from the University of Wisconsin School of Medicine and Public Health in Madison, and colleagues described the relationships of risk alleles in complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) with the incidence and progression of AMD in a cohort including 4,282 individuals followed during a 20-year study. was defined as low (presence of zero to one risk allele; 2,820 individuals); intermediate (two risk alleles; 1,129 individuals); and high (three to four risk alleles; 333 individuals).

The researchers found that the five-year incidence of early AMD was 9.1 percent and of late AMD was 1.6 percent, both of which increased with age. Of the participants aged 45 years with no AMD, 33.0, 39.9, and 46.5 percent, respectively, in the low, intermediate, and high genetic risk groups were estimated to develop early AMD, while 1.4, 5.2, and 15.3 percent, respectively, were estimated to develop late AMD by age 80 years.

"The value of will be determined as the pathogenesis of the disease becomes better understood and new evidence emerges to support cost-effective interventions before onset or at the earliest stages of the disease," the authors write. "For now, knowing the phenotype when early AMD is present contributes more to risk assessment than knowing the genetic risk based on the two AMD with the largest attributable risk."

Explore further: Researchers develop risk assessment model for advanced age-related macular degeneration

More information: Abstract
Full Text (subscription or payment may be required)

Related Stories

Researchers develop risk assessment model for advanced age-related macular degeneration

August 8, 2011
A new risk assessment model may help predict development of advanced age-related macular degeneration, according to a report published Online First by Archives of Ophthalmology, one of the JAMA/Archives journals.

Researchers ID genetic mutation associated with high risk of age-related macular degeneration

October 24, 2011
Age- related macular degeneration (AMD) is the leading cause of severe visual loss among the elderly. Researchers had previously identified several relatively common genetic variants which together predict a person's increased ...

Recommended for you

Combination of type 2 diabetes and sleep apnoea indicates eyesight loss within four years

July 4, 2017
Research led by the University of Birmingham has discovered that patients who suffer from both Type 2 diabetes and obstructive sleep apnoea are at greater risk of developing a condition that leads to blindness within an average ...

Nearly 60% of pinkeye patients receive antibiotic eye drops, but they're seldom necessary

June 28, 2017
A new study suggests that most people with acute conjunctivitis, or pinkeye, are getting the wrong treatment.

Magnetic implants used to treat 'dancing eyes'

June 26, 2017
A research team has successfully used magnets implanted behind a person's eyes to treat nystagmus, a condition characterised by involuntary eye movements.

Drug shows promise against vision-robbing disease in seniors

June 21, 2017
An experimental drug is showing promise against an untreatable eye disease that blinds older adults—and intriguingly, it seems to work in patients who carry a particular gene flaw that fuels the damage to their vision.

Reproducing a retinal disease on a chip

June 15, 2017
Approximately 80% of all sensory input is received via the eyes, so suffering from chronic retinal diseases that lead to blindness causes a significant decrease in the quality of life (QOL). And because retinal diseases are ...

New gene therapy for vision loss proven safe in humans

May 16, 2017
In a small and preliminary clinical trial, Johns Hopkins researchers and their collaborators have shown that an experimental gene therapy that uses viruses to introduce a therapeutic gene into the eye is safe and that it ...

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.