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) |
