Table 1 Mutations in crystallin alpha A (CRYAA) gene associated with pediatric or congenital cataract

1

c.34C > T

p.R12C

AD

Congenital, nuclear, lamellar

[25, 31–34]

1

c.61C > T

p.R21 W

AD

Congenital, laminar nuclear, polar, anterior polar

[24, 29, 31, 35]

1

c.62G > A

p.R21Q

AD

Lamellar

[19]

1

c.62G > T

p.R21L

Sporadic

Central posterior

[36]

1

c.145C > T

p.R49C

AD

Central nuclear

[29, 37]

1

c.160C > T

p.R54C

AR

Total, nuclear

[31, 38]

1

c.161G > C

p.R54P

AD

Y-sutural

[39]

1

c.161G > T

p.R54L

AD

Nuclear

[40]

2

c.292G > A

p.G98R

AD

Lamellar, punctate, Y-suture

[41, 42]

3

c.346C > T

p.R116C

AD

Zonular central nuclear, nuclear

[41, 43, 44]

3

c.347G > A

p.R116H

AD

Variable, nuclear, punctate, total

[35, 45–47]