Table 1. Clinical features of oldest affected individuals of families with variants in OCA1-4.
| Families | ID | Sex | Allele | Ethnicity | Skin color | Hair color | Iris color | Visual Acuity | Type of refraction error | Fundus | Foveal hypoplasia | Photophobia | Nystagmus | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Right Left | Right Left | ||||||||||||||
| TYR | |||||||||||||||
| PKAB115 | IV:4 | M | c.164 G > C | Jatt sidhu | White | Yellow white | Grey blue | NA | NA | NA | NA | NA | NA | Negative | |
| PKAB174 | IV:4 | M | c.223 G > T | Qureshi | White | Yellow white | Grey blue | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB200 | IV:4 | M | c.585 G > A | Gondal | White | White | Grey blue | NA | NA | NA | NA | NA | NA | Negative | |
| PKAB66 | V:3 | M | c.649 C > T | Alvi | White | Yellow white | Brown | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB76 | IV:7 | M | c.649 C > T | Mochi | White | Yellow white | Brown | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB141 | IV:3 | M | c.649 C > T | Arain | White | Yellow white | Hazel green | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB142 | IV:3 | M | c.649 C > T | Minhas | White | Yellow white | Hazel green | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB147 | III:3 | M | c.649 C > T | Raajpoot | White | Yellow white | Hazel green | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB118 | IV:2 | F | c.832 C > T | Mula khel | White | White | Grey blue | 6/12 | 6/12 | −1.00/-2.5*160–1.00/-1.00*20 | Albinotic | Positive | Positive | Positive | |
| PKAB120 | III:13 | M | c.832 C > T | Arain | White | White | Grey | 6/60 | 6/60 | −4.00*180–3.50*180 | Albinotic | Positive | Positive | Positive | |
| PKAB143 | IV:7 | M | c.832 C > T | Malick | White | White | Grey | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB145 | IV:2 | F | c.832 C > T | Arain | White | Yellow white | Grey blue | NA | NA | NA | NA | NA | NA | ||
| PKAB165 | IV:8 | M | c.832 C > T | Jatt | White | White | Grey blue | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Negative | |
| PKAB183 | VI:1 | F | c.1037–7 T > A | Sayyad bukhari | Yellow | Pinkish | Brownish | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB185 | IV:4 | F | c.832 C > T | Sayyad bukhari | White | White | Grey blue | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB186 | IV:3 | F | c.1037–7 T > A | Sayyad bukhari | Yellow | Pinkish | Brownish | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB188 | VI:1 | M | c.1037–7 T > A | Khokar | Yellow | Pinkish | Brownish | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB189 | V:11 | M | c.832 C > T | Bhatti | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB194 | VI:2 | M | c.832 C > T | Raajpoot | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| LUAB05 | IV:8 | F | c.832 C > T | Urdu speaking | Pinkish white | White | Grey blue | 6/60 | 6/60 | Myopic type | Pigmented | Poorly formed | Positive | Positive | |
| LUAB08 | V:7 | M | c.832 C > T | Urdu speaking | White | White | Grey blue | 4/60 | 4/60 | Clear | Absent | Positive | Positive | Negative | |
| LUAB19 | IV:3 | M | c.832 C > T | Urdu speaking | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB204 | IV:9 | M | c.832 C > T | Jatt | White | White | Grey blue | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB128 | IV:3 | M | c.896 G > A | Abbasi | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB154 | IV:5 | M | c.896 G > A | Waseer | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB138 | III:7 | F | c.943–948delTCAGCT | Butt | White | White | Grey blue | 6/12 | 6/18 | −3.00*20–0.50/-2.00*160 | Albinotic | Positive | Positive | ||
| LUAB01 | V:4 | M | c.1037–18 T > G | Urdu speaking | White | White | Light brown | 6/60 | 6/60 | Hypermetropia | Clear | Poorly formed | Positive | Positive | |
| PKAB105 | IV:9 | M | c.1037–7 T > A | Gouraya | White | Yellow white | NA | NA | NA | NA | NA | NA | NA | Negative | |
| PKAB197 | IV:3 | M | c.1037 G > A | Sahoo | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB119 | IV:9 | M | c.1147 G > A | Bangulzai | White | White | Grey/brown | 6/12 | 6/18 | + 1.50/-3.00*10 + 1.50/-3.00*180 | Albinotic | Positive | Positive | Positive | |
| PKAB130 | IV:8 | F | c.1184 + 2 T > C | Bhatti | White | White | Light green | 6/60 | 6/60 | Myopic astigmatism | Albinotic | Positive | Positive | Positive | |
| PKAB193 | IV:2 | F | c.1204 C > T | Gujar | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB64 | III:6 | M | Exons 4–5 deletion | Jatt | Golden | Blonde | Brownish green | 6/60 | 6/60 | + 1.75/0*160–2.75/-2*180 | — | Present | Positive | Present | |
| PKAB168 | IV:8 | M | Exons 4–5 deletion | Chakotaray | Grey white | White | Brown | NA | NA | NA | NA | Positive | Positive | Positive | |
| PKAB81 | IV:5 | F | c.1255 G > A | Rajpoot | White | Yellow white | Grey | 6/60 | 6/24 | Hyperopic and astigmatic | Albinotic | Positive | Positive | Positive | |
| PKAB106 | IV:4 | M | c.1255 G > A | Shaikh | White | Golden yellow | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB107 | IV:1 | F | c.1255 G > A | Chanarr | White | Yellow white | Grey blue | 6/60 | 6/60 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB140 | IV:7 | F | c.1255 G > A | Daaye | White | Yellow white | Grey blue | 6/18 | 6/18 | Myopic | Albinotic | Positive | Positive | Positive | |
| PKAB184 | IV:6 | M | c.1255 G > A | Oteera | White | White | Grey blue | CF | HMt | NA | Albinotic | Positive | Positive | Positive | |
| PKAB191 | V:4 | M | c.1255 G > A | Dodiyaanay Sial | White | White | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| LUAB03 | V:6 | M | c.1255 G > A | Sindhi speaking | Pinkish white | White | Hazel | 1/60 | 1/60 | No improvement | Clear | Poorly formed | Positive | Positive | |
| GUAB01 | IV:6 | M | c.1255 G > A | Saraiki speaking | Light blonde | Light blonde | Blue grey | NA | NA | NA | NA | NA | Positive | Positive | |
| OCA2 | |||||||||||||||
| PKAB70 | IV:7 | M | Exons 3–14 deletion | Maachi | White | Yellow | Green | 6/36 | 6/36 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB69 | V:6 | M | Exons 7–8 deletion | Mughal | Pink white | Silver yellow | Grey | CF | CF | −3.00/-3.50*178–3.00/-4.00*3 | Albinotic | Positive | Positive | Positive | |
| PKAB77 | IV:6 | M | Exons 7–8 deletion | Terkhan | Pink white | Silver Yellow | Grey | 6/36 | 6/36 | −1.75/-1.005–5.25/-1.25*20 | Albinotic | Positive | Positive | Positive | |
| PKAB127 | IV:4 | M | c.1045–15 T > G | Rajpoot | White | Yellow | Hazel brown | 6/48 | 6/48 | Compound astigmatism | Albinotic | Positive | Positive | Positive | |
| PKAB132 | III:5 | M | c.1045–15 T > G | Jatt | White | Yellow white | Light green | NA | NA | NA | NA | NA | NA | NA | |
| PKAB134 | III:3 | M | c.1045–15 T > G | Abbasi | White | Yellow white | Light green | NA | NA | NA | NA | NA | NA | NA | |
| PKAB135 | IV:3 | M | c.1045–15 T > G | Arain | White | White | Light green | NA | NA | NA | NA | NA | NA | NA | |
| PKAB177 | IV:7 | F | c.1045–15 T > G | Bhatti | White | Yellow | Hazel brown | 6/48 | 6/48 | Compound astigmatism | Albinotic | Positive | Positive | Positive | |
| GUAB03 | IV:8 | F | c.1045–15 T > G | Saraiki speaking | Brown | Brown | Greenish | NA | NA | NA | NA | NA | Positive | Positive | |
| LUAB07 | IV:3 | M | c.1045–15 T > G | Sindhi speaking | White | White | Light brown | 6/18 | 6/18 | Hypermetropia | Pigmented | Poorly formed | Positive | Positive | |
| LUAB02 | IV:8 | M | c.1056 A > C | Sindhi speaking | White | White | Light brown | 3/18 | 3/18 | Hypermetropia | Pigmented | Poorly formed | Positive | Positive | |
| PKAB136 | IV:3 | F | c.1064 C > T | Chandia | White | Yellow white | Light green | NA | NA | NA | NA | NA | NA | NA | |
| GUAB02 | IV:6 | M | c.1075 G > C | Saraiki speaking | Light golden | Light golden | Greenish | NA | NA | NA | NA | NA | Positive | Positive | |
| PKAB144 | IV:2 | M | c.1182 + 2 T > TT | Arain | White | Yellow white | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB148 | IV:5 | M | c.1211 C > T | Sayyad | White | Golden yellow | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| LUAB06 | V:8 | M | c.1322 A > G | Sindhi speaking | Pinkish white | Golden white | Light brown | 6/60 | 6/60 | Mycopic Type | Pigmented | Poorly formed | Positive | Positive | |
| PKAB172 | V:1 | F | c.1456 G > T | Wains | White | Yellowish brown | Brown | 6/48 | 6/40 | Myopic astigmatism | Albinotic | Positive | Positive | Positive | |
| PKAB187 | III:3 | M | c.1456 G > T | Bhutta | White | Golden yellow | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| GUAB06 | IV:5 | M | c.1456 G > T | Saraiki speaking | Golden | Golden | Greenish | NA | NA | NA | NA | NA | Positive | Positive | |
| LUAB17 | IV:3 | F | c.1456 G > T | Sindhi speaking | White | Yellow white | Grey blue | NA | NA | NA | NA | NA | NA | NA | |
| PKAB122 | IV:2 | F | c.1922 C > T | Mughal | White | Golden yellow | Light brown | 6/24 | 6/24 | NA | Albinotic | Positive | Positive | Positive | |
| LUAB10 | III:9 | F | c.1951 + 4 A > G | Urdu speaking | White | White | Light brown | 6/18 | 6/18 | Hypermetropia | Pigmented | Poorly formed | Positive | Positive | |
| PKAB137 | IV:4 | M | Exon 19 deletion | Malick | White | Yellow white | Hazel green | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB121 | IV:3 | F | Exons 20–24 deletion | Achakzai | White | White | Brown | 6/18 | 6/18 | 2.50*20–2.0*160 | Albinotic | Positive | Positive | Negative | |
| PKAB116 | IV:4 | M | Exons 22–24 deletion | Raajpoot | White | Golden yellow | Misty grey | 6/36 | 6/36 | +3.75/-4.75*15 +1.75/+3.0*80 | Albinotic | Positive | Positive | Positive | |
| LUAB09 | IV:5 | F | c.2228 C > T | Urdu speaking | White | Goldish white | Light brown | 6/18 | 6/18 | Hypermetropia | Pigmented | Poorly formed | Positive | Positive | |
| PKAB170 | V:3 | F | c.2360 C > A | Jatt Langa | White | Yellow | Brown | 6/36 | 6/36 | Hyperopic | Albinotic | Positive | Positive | Positive | |
| PKAB125 | IV:5 | M | c.2360 C > T | Arain | White | Golden yellow | NA | NA | NA | NA | NA | NA | NA | Positive | |
| TYRP1 | |||||||||||||||
| PKAB166 | IV:3 | F | c.256 G > T | Bhutta | Brown | Wheat | Brown | 6/6 | 6/6 | Emmetropic | Normal | Negative | Negative | Positive | |
| PKAB164 | IV:5 | M | c.1067 G > A | Langa | Grey brown | Wheat | Brown | 6/24 | 6/24 | −2.25/−5.25*97–0.50/−5.00*90 | Albinotic | Positive | Positive | Positive | |
| PKAB192 | V:2 | M | c.1067 G > A | Haraaj | Wheat | Golden yellow | Light green | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB205 | IV:12 | F | c.1067 G > A | Matam | Wheat | Golden yellow | Light green | NA | NA | NA | NA | NA | NA | Positive | |
| PKAB146 | III:1 | M | c.1532 C > T | Shaikh | Wheat | Yellow brown | Grey | 6/9 P | 6/9 P | +8.0/−1.0*10 +7.50/−1.00*180 | Normal | Negative | Positive | Positive | |
| SLC45A2 | |||||||||||||||
| GUAB04 | IV:5 | M | c.1532 C > T | Saraiki speaking | Light brown | Golden | Bluish | NA | NA | NA | NA | NA | Positive | Positive | |
| GUAB05 | II:9 | M | c.1532 C > T | Saraiki speaking | Light brown | Golden | Bluish | NA | NA | NA | NA | NA | Positive | Positive | |
NA: Not available.