DNA test enhances diagnoses of rare diseases linked to childhood blindness

San Francisco-Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose several rare diseases marked by childhood blindness.

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According to the recent study-published in Ophthalmology, the journal of the American Academy of Ophthalmology-the researchers used a single test to tailor care specifically to a child’s condition based on their mutations, reducing the time and money spent on a diagnosis, and enabling earlier treatment and genetic counseling.

While diagnosing rare diseases can be a lengthy, costly, and inconclusive process involving several clinical assessments and taking a detailed family history, the researchers at the University of Manchester sped up diagnosis to a matter of weeks by testing for mutations in all 115 known congenital cataracts genes at one time by employing targeted next-generation gene sequencing.

In 75% of the 36 cases tested, the DNA test determined the exact genetic cause of congenital cataracts.

“There are many diseases that involve congenital cataracts, but finding the exact reason was always difficult,” said Graeme Black, DPhil, professor of genetics and ophthalmology at the University of Manchester, and strategic director of the Manchester Centre for Genomic Medicine. “Even with a family history, diagnosing these rare diseases was always a bit of a shot in the dark.”

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In the course of their work-conducted in collaboration with Manchester Royal Eye Hospital-the researchers found previously undescribed mutations linked to cataract formation.

“There is hope that our work may one day provide more insight into the development and treatment of age-related cataracts,” said Rachel Gillespie, MSc, lead author of the study who designed and developed the test.

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