December 17, 2014
Next-generation DNA sequencing demonstrated the capability to alter clinical management, direct care pathways and enable accurate genetic counseling in the diagnosis of bilateral congenital cataract, according to a study.
The study included 36 patients who were diagnosed with nonsyndromic or syndromic bilateral congenital cataract. Patients underwent an ophthalmic examination as well as dysmorphology assessment as needed.
DNA sequencing determined the cause of congenital cataract in 75% of patients; 85% of patients with nonsyndromic congenital cataract were likely to have pathogenic mutations and 63% of patients had potential disease-causing mutations, the study said.