Table 4. Outcome of TORCH screening and subsequent NGS testing in congenital and developmental cataract patients.
| Patient number | FH/ consanguinity | Systemic | T IgM | T IgG | R IgM | CMV IgM | CMV IgG | HSV IgM | HSV IgG | P IgM | P IgG | S IgG | RPR/TPAA | CMV PCR | HSV PCR | NGS (gene mutation) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Yes/no | No | -ve | -ve | -ve | -ve | -ve | -ve | -ve | +ve (GJA3 mutation) | ||||||
| 2 | No/yes | No | -ve | -ve | -ve | -ve | +ve | -ve | -ve | |||||||
| 3 | No/yes | Yes | -ve | -ve | -ve | -ve | -ve | |||||||||
| 4 | No/no | Yes | -ve | -ve/ -ve | +ve (CYP51A1 mutation) | |||||||||||
| 5 | No/no | Yes | -ve | +ve | -ve | -ve | +ve | -ve | +ve | -ve | -ve | -ve | ||||
| 6 | No/no | Yes | -ve | -ve | -ve | -ve | +ve (AKR1E2 mutation) | |||||||||
| 7 | No/no | Yes | -ve | +ve | -ve | -ve | -ve | -ve | ||||||||
| 8 | Yes/no | Yes | -ve/ -ve | -ve | ||||||||||||
| 9 | No/no | No | -ve | -ve | -ve | -ve | ||||||||||
| 10 | No/yes | Yes | -ve | -ve |
Abbreviations: CMV, cytomegalovirus; FH, family history; HSV, herpes simplex virus; P, parvovirus; R, rubella; RPR, rapid plasma reagin; S, syphilis; T, toxoplasmosis; TPAA, treponema pallidum agglutination assay; +ve, positive; -ve, negative. Positive results are in bold font.