Predicting Multiple Vision-Robbing Childhood Diseases with One Simple Test

In August of 2014, the American Academy of Ophthalmology announced a major breakthrough in the detection of ocular diseases that strike during childhood, causing visual impairment and even blindness. Researchers in the United Kingdom worked to develop the ground breaking testing procedure. A simple blood sample is needed for the new DNA test that can now be used to predict and diagnose several diseases at once. A specialize form of DNA testing that was originally used to detect congenital cataracts in children, has been found, with some modification, to be an effective diagnostic tool in detecting numerous obscure maladies of the eye.

The discovery makes diagnosis faster, cheaper, and easier, allowing doctors to start treating conditions early on and provide more effective, disease specific care. Since congenital cataracts can be a stand-alone problem, either as a f fluke mutation or due to a child’s mother being ill during pregnancy, or as a symptom of one of around 100 different ocular diseases, it has previously been difficult for eye care professionals to accurately pinpoint their root cause.

Specialized genetic testing is useful in determining the cause and in helping to narrow down an appropriate treatment for congenital cataracts. There is a set of 15 genes that the DNA test highlights with primers and uses as genetic markers. Mutations in these 15 different genes outline a patient’s specific condition. Some of the diseases linked to congenital cataracts include:

Down’s syndrome
Congenital rubella
Conradi syndrome
Ectodermal dysplasia
Galactosemia
Hallermann-Streiff syndrome
Pierre-Robin syndrome
Lowe syndrome

There are dozens of genetic diseases linked to congenital cataracts. Many of the conditions associated with congenital cataracts also affect other physical traits and cause a slew of functional issues. With quicker diagnostic abilities, physicians can provide patients and their families with genetic counseling along with the proper medical treatments.

Worldwide, between 20,000 and 40,000 children are born with congenital cataracts. Cataracts, of any kind, can lead to major problems with eye health. Special eye care is necessary to treat cataracts before they cause complete blindness. Congenital cataracts can show up immediately at birth or develop sometime during the early stages of childhood. When found in infancy, congenital cataracts can hinder proper development of vision. In some patients, congenital cataracts can appear only in the peripheral vision spectrum, or as a small patch in the central line of vision and therefore do not require surgery, however that is not typically the case.

Treatment for cataracts typically involves surgical removal of the top lens of the eye and the insertion of a manufactured lens. Depending on the ocular damage done by the cataract, even with surgery, some patients remain legally blind and still require corrective glasses. The more time it takes to treat cataracts, the worse the prognosis is for the patient.

Prior to this new testing breakthrough, time was not on the side of the doctors. Analysis of a patient’s condition typically involved collecting a detailed family history and running numerous tests in order to systematically cross off possible conditions, before finally coming to an inconclusive answer. Genetic testing of the 15 genes involved with congenital cataracts would normally take years. The new testing method allows for conclusive results within a matter of weeks instead of years.

Thirty-six cases were observed during the clinical trial study that took place in the United Kingdom. Out of the 36 cases, 75% of patients were given accurate, prompt diagnoses of their condition. The advanced test only takes two months to complete.

Currently, the congenital cataract DNA test is only offered in the United Kingdom. The nation began offering the service to infants and children with congenital cataracts in December, 2013. The test is also an effective way for potential parents with a family history of congenital cataracts to evaluate the risk to their children. Registered healthcare facilities around the world can request the congenital cataract DNA test through international referral, to help aid in eye care.

While the multi-use DNA test for congenital cataracts is in its early stages of use, researchers hope that the technology will have a far reaching impact on the field of Ophthalmology. Since the test has been useful in pinpointing the genetic markers and mutations that lead to the formation of cataracts, it is hoped that eye care professionals will one day discover the exact cause of age related cataracts. Identifying clear causes for ocular conditions is the first step in developing a treatment for them.