Abstract
Purpose :
Children with unexplained bilateral cataracts routinely undergo testing for genetic, infectious, and metabolic etiologies. However, the Pediatric Eye Disease Investigator Group (PEDIG) has recommended reevaluation of this common diagnostic approach. In this study, we evaluate the various tests ordered to investigate their utility in identifying the etiology of bilateral idiopathic pediatric cataracts at our institution.
Methods :
The electronic medical records were reviewed for all children who underwent cataract surgery at Children’s Hospital Colorado from March 2006 to December 2022 to identify all children who underwent surgery by pediatric ophthalmology for bilateral unexplained cataracts. We recorded the results of any genetic, infectious, and metabolic testing ordered by ophthalmology in the work-up for the cataracts found in these children.
Results :
Forty-five children were found to have undergone surgery for bilateral unexplained cataracts. In the work-up for these children, genetic testing was ordered in 35 (78%) patients, TORCH titers in 34 (76%), galactosemia testing in 35 (78%), and urine reducing substances (URS) in 17 (38%). Of the genetic tests ordered, 16 (46%) revealed a known pathogenic mutation associated with cataracts. Twenty-three (68%) patients were IgG-positive for a TORCH infection, but no child was found to be positive on confirmatory testing. Three (9%) patients had abnormal initial test results in evaluation for galactosemia, but galactosemia was ruled out in all three cases through confirmatory testing. Two (12%) patients tested positive for URS, though follow-up testing in both cases ruled out disorders of carbohydrate metabolism.
Conclusions :
Genetic testing often identified the etiology of cataracts, but testing for TORCH infections and metabolic disorders was not diagnostic in any children from this cohort. TORCH titers were not considered diagnostic in any of these children since maternally transmitted IgG persists for 6-12 months and because no child was IgM positive. While genetic testing is very useful for determining the etiology of bilateral pediatric cataracts, our study supports further consideration of eliminating the routine ordering of TORCH titers and perhaps metabolic testing when clinical suspicion is low or in otherwise healthy children.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.