Study uses next-generation sequencing to assess etiology of early-onset cataracts

A study demonstrated that genetic testing in patients with acquired early-onset bilateral cataracts can provide insights into etiology.

The retrospective, observational study included 347 U.S. patients aged 18 months to 35 years with a history of idiopathic bilateral cataracts not caused by infection or trauma; most (n=313; 90.2%) were younger than 19 years, and the median patient age was 8 years.

Next-generation sequencing showed a positive result for 69 patients (19.9%), in whom 74 pathogenic or likely pathogenic variants were detected in 24 distinct genes that play a role in cataract formation. Genetic testing found that single nucleotide variants in crystallin genes accounted for 27% of all variants (n=20).

The researchers identified copy number variant deletions and duplications in genomic regions with known cataract genes and identified 5 deletions ranging from 1.32–2.41 Mb in size in a genomic region involved with 1q21.1 microdeletion syndrome.

“Identification of disease etiology can inform treatment strategies for patients and health care providers,” the authors concluded. “This study demonstrates that genetic testing in patients with acquired early-onset bilateral cataracts can identify causative variants and also aid in diagnosis of associated genetic disorders that, if left untreated, could significantly reduce quality of life in affected individuals.”

Reference

Fox JC, Dutta R, Nihalani BR, et al. Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing. J AAPOS. 2024;28(1):103808. doi:10.1016/j.jaapos.2023.11.011