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. 2022 Jun 15;63(6):15. doi: 10.1167/iovs.63.6.15

Table 1.

Inherited Retinal Disease Types With Numbers of Participants, Age, Sex, and Mean ALs

Age at Measurement of AL (y) AL (mm)
Inherited Condition n Median IQR Sex (% Male) Mean SD
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