Congenital cataract DNA test leads to faster diagnosis

September 26, 2014

Advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published in Ophthalmology.

San Francisco-Advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published in Ophthalmology. According to researchers at the University of Manchester, doctors were able to use a single test to tailor care specifically to a child’s condition based on their mutations, reducing the time and money spent on diagnosis and enabling earlier treatment and genetic counseling.

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Congenital cataracts can arise following a maternal infection or be inherited as an isolated abnormality. They can also appear as a symptom of more than 100 rare diseases, making mutations in the 115 associated genes useful as diagnostic markers for the illnesses. However, diagnosing these diseases can be costly, and it can take a long time to complete the necessary tests.

With new DNA sequencing technology called targeted next-generation sequencing, researchers sped up diagnosis to a matter of weeks by testing for mutations in all 115 known congenital cataracts genes at once.

According to researchers, in 75 percent of the 36 cases tested, the DNA test determined the exact genetic cause of congenital cataracts. In one case, the DNA test helped diagnose a patient with Warburg Micro syndrome, a very rare disease which is marked by an abnormally small head and the development of severe epilepsy, among other medical issues. Having a clear diagnosis allowed for genetic counseling and appropriate care to be delivered quicker than previously possible without the test.  

In the course of their work, researchers also found previously undescribed mutations linked to cataract formation.

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., the congenital cataract DNA test can be requested by registered medical facilities through international referral. Results generally take about two months.