DNA Test for Congenital Cataracts Leads to Faster, More Accurate Diagnoses of Rare Diseases Linked to Childhood Blindness
Study shows targeted next-generation gene sequencing can identify cause of inheritable syndromes, allowing earlier treatment and genetic counseling
Each year, between 20,000 and 40,000 children worldwide are born with congenital cataracts, a disease that clouds the lens of the eye and often requires surgery and treatment to prevent blindness. The disease can arise following a maternal infection or be inherited as an isolated abnormality. Congenital cataracts can also appear as a symptom of more than 100 rare diseases, making mutations in the 115 genes associated with congenital cataracts useful as diagnostic markers for the illnesses.
Diagnosing these rare diseases previously proved a lengthy, costly and inconclusive process involving numerous clinical assessments and taking a detailed family history. DNA testing, one gene at a time, would have taken years to complete. Employing new DNA sequencing technology, called targeted next-generation sequencing,…
Source Newsroom: American Academy of Ophthalmology (AAO) and Newswise