Table 1 Breakdown among diagnostic categories, and percentage of study participants in each category for which a probable molecular diagnosisa could be identified.

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

Diagnostic category Number of probands Diagnostic yield of genetic testing
Bilateral pediatric cataracts 74 50% (37/74)
Bilateral ectopia lentis 8 75% (6/8)
Bilateral ocular anterior segment dysgenesis (including pediatric primary glaucoma) 28 39% (11/28)
Albinism 32 91% (29/32)
Inherited retinal disease 59 78% (46/59)
  1. aWe considered probands to have probable molecular diagnosis when they carried clearly or likely pathogenic variant(s) in an apparently disease-causing state (e.g., ≥1 variant in a gene linked with dominant disease or ≥2 variants in a gene linked with recessive disease). Further information can be found in “Materials and Methods” and in Supplementary Table 1.