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

“Interesting article on congenital cataracts in children.-MDA”
Released: 21-Aug-2014

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.[1] 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,…
read more:http://www.newswise.com/articles/dna-test-for-congenital-cataracts-leads-to-faster-more-accurate-diagnoses-of-rare-diseases-linked-to-childhood-blindness?ret=/articles/list&category=medicine&page=1&search%5Bstatus%5D=3&search%5Bsort%5D=date+desc&search%5Bsection%5D=10&search%5
Source Newsroom: American Academy of Ophthalmology (AAO) and Newswise
Image: en.wikipedia.org/wiki/Congenital_catarac