Conditions with >10 participants |
|
|
|
|
|
|
RPE65-associated autosomal recessive retinal dystrophy |
29 |
18.0 |
11.9–21.1 |
48.3 |
23.27 |
2.16 |
CNGA3-associated achromatopsia |
36 |
22.7 |
13.5–32.5 |
50.0 |
23.87 |
1.72 |
CNGB3-associated achromatopsia |
65 |
18.9 |
13.3–27.3 |
50.8 |
23.15 |
1.67 |
ABCA4-associated retinopathy (Stargardt disease) |
93 |
16.3 |
11.5–27.5 |
43.0 |
23.67 |
1.20 |
RPGR-related disease (rod–cone dystrophy, n = 71; cone or cone–rod dystrophy, n = 5) |
76 |
24.8 |
15.7–31.7 |
100 |
24.73 |
1.64 |
Blue cone monochromacy |
19 |
18.0 |
11.8–34.5 |
100 |
26.32 |
2.01 |
Bornholm eye disease |
20 |
16.5 |
13.1–24.7 |
100 |
26.59 |
2.13 |
TYR-associated oculocutaneous albinism |
28 |
21.0 |
11.8–36.0 |
42.9 |
22.60 |
2.18 |
GPR143-associated ocular albinism |
11 |
19.0 |
10.2–30.5 |
100 |
23.25 |
1.51 |
OCA2-associated oculocutaneous albinism |
18 |
16.8 |
13.3–30.6 |
50.0 |
23.97 |
1.80 |
Other conditions |
|
|
|
|
|
|
PDE6C-associated achromatopsia |
6 |
41.0 |
36.4–46.4 |
16.7 |
25.74 |
2.36 |
ATF6-associated achromatopsia |
8 |
26.3 |
17.3–42.3 |
25.0 |
23.03 |
2.40 |
GNAT2-associated achromatopsia |
6 |
31.0 |
10.5–43.8 |
66.7 |
24.03 |
2.97 |
KCNV2-associated retinopathy (cone dystrophy with supernormal rod response) |
3 |
25.7 |
23.1–67.7 |
100 |
26.40 |
2.98 |
R9AP-associated disease (cone dysfunction with “bradyopsia”) |
2 |
21.7 |
17.8–25.5 |
0.0 |
27.00 |
2.96 |
GUCY2D-associated disease (autosomal dominant cone or cone–rod dystrophy) |
6 |
46.3 |
24.7–49.2 |
33.3 |
24.67 |
1.24 |
PROM1-associated disease (autosomal dominant macular or retinal dystrophy) |
6 |
43.0 |
31.2–49.1 |
66.7 |
24.26 |
1.00 |
RDH12-associated disease (autosomal dominant rod–cone dystrophy) |
1 |
14.2 |
— |
0.0 |
23.19 |
— |
IMPG2-associated disease (autosomal recessive retinal dystrophy) |
2 |
26.0 |
25.7–26.3 |
0.0 |
23.44 |
1.50 |
Total |
435 |
19.5 |
13.1–30.7 |
61.6 |
24.03 |
2.00 |