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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.