Researchers found that they could enhance the diagnosis of bilateral congenital cataract by integrating genomic data from next-generation sequencing and phenotypic data.
The researchers believe that this comprehensive screen will broaden access to genetic testing and lead to improved diagnostic and management outcomes.
Gillespie and colleagues tested 36 patients with nonsyndromic or syndromic bilateral congenital cataract and one known positive control.
According to the study, next-generation DNA sequencing technologies were able to determine the genetic cause of congenital cataract in 75% of individuals, and 85% of patients with nonsyndromic congenital cataract were found to have likely pathogenic mutations.
The rate of detection in patients with syndromic congenital cataract was also high, according the researchers, with 63% having potential disease-causing mutations.
“This research has shown that ascertaining the precise genetic cause of the manifesting congenital cataract is of clinical utility and alters the management and counseling of the patient,” the researchers wrote.
They recommended that all children with bilateral cataracts without a family history of nonsyndromic dominant cataract be referred for a pediatric and genetic assessment to explore evidence of congenital infection, neurodevelopment problems, metabolism disorders and chromosomal abnormality.