Table 2.
Visual acuity and spherical equivalent by mutation type in RP2 carrier females and affected males.
| Mutation | Carrier females | Affected males | Visual acuity p-value | Spherical equivalent p-value | ||||
|---|---|---|---|---|---|---|---|---|
| N | LogMAR VA [mean (median, range)] | Spherical Equivalent [D] [mean (median, range)] | N | LogMAR VA [mean (median, range)] | Spherical Equivalent [D] [mean (median, range)] | |||
| Missense Mutation | 9 | 0.4 (0.5, 0.1 to 1) | −4.4 (−4.5, 2.8 to −14.5) | 9 | 1.4 (1.3, 0.5 to 2.7) | −6.5 (−6.6, −2 to −9.6) | 0.001 | 0.38 |
| Nonsense Mutation | 11 | 0.4 (0.5, 0 to 1.9) | −4.5 (−5.0, 0.3 to −15.3) | 8 | 1.2 (1.0, 0.2 to 2.7) | −1.8 (−3.4, 2.8 to −4.5) | 0.02 | 0.28 |
| Deletion Mutation | 1 | 0.2 (0.2, NA) | 0.8 (0.8, NA) | 3 | 1.6 (1.6, 1.4 to 1.7) | −12.8 (−12.5, −12 to −13.9) | — | — |
| Frameshift Mutation | 1 | 1.0 (1.0, NA) | 4.3 (4.3, NA) | 2 | 1.1 (1.1, 0.5 to 1.8) | −6.7 (−6.7, −0.9 to −12.5) | — | — |
| Splice Mutation | 1 | 0.2 (0.2, NA) | −1.3 (−1.3, NA) | 1 | 0.5 (0.5, NA) | −2.5 (−2.5, NA) | — | — |