|
Gene/Family
|
Mutation (protein)
|
Sex
|
Age (yrs)
|
Hair color
|
Skin color
|
Iris color
|
Visual Acuity Right Left
|
Type of refraction error
|
Fundus
|
Foveal hypoplasia
|
Photophobia#
|
Nystagmus
|
Con
|
|---|
|
TYR
|
|
PKAB074
|
p.Pro21Leu
|
M
|
19
|
Brown
|
Pinkish white
|
Grey/Brown
|
4/60
|
4/60
|
Myopic
|
Albinotic
|
Yes
|
Present
|
Yes
|
Yes
|
|
PKAB001
|
p.Cys35Arg
|
M
|
40
|
White
|
Pinkish white
|
Grey/Blue
|
6/38
|
6/38
|
Compound myopic hypermetropic astigmatism
|
Albinotic
|
Yes
|
Present
|
Yes
|
Yes
|
|
PKAB065
|
p.Cys35Arg
|
F
|
28
|
White
|
Whitea
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
No
|
|
PKAB057
|
p.Arg278*
|
F
|
7
|
White
|
Whitea
|
Light Brown
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
Yes
|
|
PKAB155
|
p.Arg278*
|
M
|
16
|
White
|
Whitea,b
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
Yes
|
|
PKAB109
|
p.Arg278*
|
M
|
24
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
Yes
|
|
PKAB153
|
p.Pro406Leu
|
F
|
18
|
Yellow
|
Whitea
|
Light Grey
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
Yes
|
|
PKAB103
|
p.Tyr411His
|
M
|
30
|
White
|
Pinkish White
|
Grey/Blue
|
6/60
|
6/60
|
Compound hypermetropic
|
Albinotic
|
Yes
|
Present
|
Yes
|
No
|
|
PKAB073
|
p.Gly419Arg
|
M
|
45
|
White
|
Whitea
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
No
|
|
PKAB078
|
p.Gly419Arg
|
F
|
12
|
White
|
Whitea,b
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Yes
|
Yes
|
|
OCA2
|
|
PKAB052
|
p.Asp486Tyr
|
F
|
1.5
|
White
|
White
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB054
|
p.Asp486Tyr
|
F
|
13
|
Yellowish- White
|
Whitea,b
|
Blue
|
6/60
|
6/60
|
Compound Myopic
|
Albinotic
|
Hypoplasia
|
Present
|
Present
|
Yes
|
|
PKAB055
|
p.Asp486Tyr
|
F
|
1.5
|
White
|
White
|
Light Grey
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB067
|
p.Asp486Tyr
|
M
|
35
|
White
|
Whitea
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
No
|
|
PKAB101
|
p.Asp486Tyr
|
M
|
25
|
White
|
Whitea
|
Grey/Blue
|
6/60
|
6/60
|
Mixed Astigmatism
|
Albinotic
|
Hyoplasia
|
Present
|
Present
|
Yes
|
|
PKAB063
|
p.Met318Ile p.Leu527Arg
|
F
|
5
|
White
|
Whitea
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB058
|
p.Pro743Leu
|
M
|
30
|
White
|
Whitea
|
Grey/Blue
|
1/60
|
4/60
|
Hypomyopic
|
Albinotic
|
N/A
|
Present
|
Present
|
No
|
|
PKAB072
|
p.Pro743Leu
|
M
|
6
|
White
|
Whitea
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB071
|
p.Ala787Thr
|
M
|
10
|
Yellowish-White
|
Whitea,b
|
Blue
|
Fc3
|
Fc3
|
Compound Hypermetropic
|
Albinotic
|
Hypoplasia
|
Present
|
Present
|
Yes
|
|
PKAB60
|
c.1045-15 T > G
|
F
|
6
|
White
|
Whitea,b
|
Grey/Brown
|
6/36
|
6/36
|
Hypermetropic Astigmatism
|
Albinotic
|
Hypoplasia
|
Present
|
Present
|
Yes
|
|
PKAB068
|
c.1045-15 T > G
|
F
|
7
|
Yellowish-White
|
Whitea
|
Blue/Brown
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB079
|
c.1045-15 T > G
|
M
|
19
|
Yellowish-White
|
Reddish
|
Grey/Brown
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB151
|
c.1045-15 T > G
|
F
|
6
|
White
|
Whitea
|
Grey/Blue
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
|
PKAB152
|
c.1045-15 T > G
|
F
|
12
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
N/A
|
Present
|
Present
|
Yes
|
- #All individuals show squinting in normal sunlight. aReddish spots throughout the skin and lips appeared sun damaged. bShow blistering on exposed skin and generalized sunburn redness. N/A not available, Cons consanguineous union.
