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Table 2 Clinical assessment of the affected individuals with mutations in TYR and OCA2

From: Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

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

  1. #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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172