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Next-generation DNA sequencing may have capability to detect congenital cataracts
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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.
Diagnosing a child with congenital cataract begins with a close examination of family history to discover any presence of ocular phenotypes and other conditions.
“All children with bilateral cataracts without a family history of nonsyndromic dominant cataract should be referred for a pediatric and genetic assessment to look for evidence of congenital infection, neurodevelopmental problems, metabolic disorders and chromosomal abnormality,” the researchers said.
According to researchers, the traditional approach to diagnosing children with congenital cataract is reactive, expensive and frequently unsuccessful.
Furthermore, researchers believe that the use of a DNA sequencing diagnostic tool will establish more linear, efficient and cost-effective patient care.
Disclosure: The authors have no relevant financial disclosures.
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