Table 3 Number of preschool children with suspected inherited eye disorders for whom genetic testing lead to a clear management change.

From: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Diagnostic category Avoiding unnecessary tests Initiating surveillance for extraocular manifestations Reducing prognostic uncertainty Determining eligibility for gene-based therapeutic trials
Bilateral pediatric cataracts 50% (37/74)a 12% (9/74)
Bilateral ectopia lentis 50% (4/8) 25% (2/8)
Bilateral ocular anterior segment dysgenesis (including pediatric primary glaucoma) 4% (1/28) 4% (1/28)
Albinism 3% (1/32)
Inherited retinal disease 8% (5/59) 25% (15/59) 3% (2/59)
Overall 21% (42/201) 9% (18/201) 7% (15/201) 1% (2/201)
  1. Further information can be found in the illustrative cases presented in “Results” and in Supplementary Table 1.
  2. aThis figure is based on the fact that there was no need to perform the conventional biochemical tests for individuals with a known molecular diagnosis.