Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

Congenital and childhood cataract (CCC) may result in prolonged visual deprivation and/or postoperative complications and can lead to lifelong visual loss. In the UK, CCC has a reported incidence of 3.5 per 10 000 by age 15 years, with an estimate of around 200 000 children globally are sightless due to cataract.1 Although early observation and surgical removal of cataract is important for sight preservation, determination of the precise cause is also necessary to ensure prompt management of multisystemic complications.