Eye HealthLifestyle Topics
Smoking and AMD
Smoking increases the risk of developing macular degeneration—quit smoking to help keep your eyes healthy.
Wait on Cataract Surgery?
An eyeglass prescription change may be all you need to improve your vision with early-stage cataracts.
Protect your sight every day
Wear a hat and sunglasses year round to prevent UV damage to your eyes.
Cozy Home = Dry Eye?
This fall and winter, when indoor heating is in use, a humidifier or a pan of water on the radiator adds moisture to dry air.
Shield Your Eyes From Allergies?
Sunglasses or eyeglasses can help prevent pollen from getting in your eyes.
What Is an Ophthalmologist?
Are You Fit at 40?
A baseline eye exam is recommended at age 40, when the signs of disease and changes in vision may start to occur.
Quicker, more accurate diagnosis of cause of childhood cataracts enables earlier treatment and genetic counseling
Most people know cataracts as a condition that can cause blindness in the elderly. However, between 20,000 and 40,000 children worldwide are born with congenital cataracts each year. A significant portion of these cases are linked to 100 or more rare inheritable diseases that can be difficult to diagnose and treat because symptoms in babies can be subtle.
To remedy this problem, researchers at the University of Manchester developed a new advanced DNA test that can quickly and more accurately diagnose rare diseases in which congenital cataracts often appear as a symptom. Being able to identify the underlying medical conditions enables doctors to give proper treatment and genetic counseling for affected families much sooner than previously possible.
Using advanced gene sequencing technology, researchers can check for mutations in the 115 genes known to be associated with congenital cataract in a single test. In 75 percent of cases, they are able to identify the disease based on the mutations, according to a study published in Ophthalmology, the official journal of the American Academy of Ophthalmology.
In the course of their work, done in collaboration with Manchester Royal Eye Hospital, researchers also found previously undescribed mutations linked to the development of cataracts.
“There is hope that our work may one day provide more insight into the development and treatment of age-related cataracts, a leading cause of blindness worldwide,” said Rachel Gillespie, MSc, lead author of the study, who designed and developed the test at the University of Manchester’s Centre for Genomic Medicine.
Infants and children who have congenital cataracts can be tested as well as prospective parents with a history of the condition who wish to evaluate the risk to their child. While only available in the U.K. at St. Mary’s Hospital in Manchester, the congenital cataract DNA test can be requested by registered medical facilities through international referral. Results generally take about two months.
Written by Shirley Dang on August 22, 2014