Skip to main content
. 2022 Jan 29;37(2):350–355. doi: 10.1038/s41433-022-01954-2

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)