Table 1 Characteristics of all OCA7 patients.
From: Clinical and mutational characteristics of oculocutaneous albinism type 7
Subject and etnic background | Variants LRMDA | Pigment hair | VA RE/LE* | Nystagmus | Iris translucency | †Fundus hypopigmentation | ‡Foveal hypoplasia | Misrouting |
|---|---|---|---|---|---|---|---|---|
P1 Kurdish | c.66dupC; c.66dupC | Brown | 1.4 both eyes | Yes | No | Grade 2 | Yes, grade 3 | Yes |
P2 Kurdish | c.66dupC; c.66dupC | Brown | 0.7/0.7 | Yes | No (but grade 1 in first year of life) | Grade 1 | Yes, grade 3 | Yes |
P3 Dutch | c.566G > A; c.565G > A | Blond | 0.9/1.0 | Yes | No | Grade 2 | Yes, grade 3 | Yes |
P4 Faroese family2 | c.580C > T; c.580C > T | Red-blond | 1.0/1.0 | Yes | Yes | Grade 1 | Yes, grade unknown | NA |
P5 Faroese family2 | c.580C > T; c.580C > T | Blond | 0.8/0.8 | Yes | Yes | Grade 1 | Yes, grade unknown | Yes |
P6 Faroese family2 | c.580C > T; c.580C > T | Dark brown | 0.5/0.5 | Yes | Yes | Grade 1 | Yes, grade unknown | Yes |
P7 Faroese family2 | c.580C > T; c.580C > T | Blond | 0.7/0.6 | Yes | Yes | Grade 1 | Yes, grade unknown | Yes |
P8 Faroese family2 | c.580C > T; c.580C > T | Blond | 1.3/1.3 | Yes | Yes, only peripheral | Grade 1 | Yes, grade unknown | Yes |
P9 Faroese family2 | c.580C > T; c.580C > T | Blond | 0.7/0.7 | Yes | Yes | Grade 1 | Yes, grade unknown | Yes |
P10 Faroese family2 | c.580C > T; c.580C > T | White | 1.3/1.3 | Yes | Yes | Grade 1 | Yes, grade unknown | Yes |
P11 Faroese family2 | c.580C > T; c.580C > T | Dark blond | 0.8/0.8 | Yes | Yes | Grade 1 | Yes, grade unknown | Yes |
P12 Lithuanian t2 | c.66dupC; c.66dupC | Dark blond | 0.7/0.7 | Yes | Yes | Grade 1 | Yes, grade 4 | Yes |
P14 Arabian t12 | c.566G > A; c.566G > A; | NA | Low, NA | Yes | NA, but ocular hypopigmentation | NA, but ocular hypopigmentation | Yes, grade unknown | NA |
P14 | c.89T > C; c.163A > T | Light brown | NA | Yes | Yes | Grade unknown | Yes, grade unknown | NA |
P15 Turkish t14 | c.66dupC; c.66dupC | Light brown | NA | Yes | NA | Ggrade unknown | NA | NA |
P16 Moroccan t14 | c.382C > T; c.382C > T | Light brown | 0.3/0.4 | Yes | Yes, but discrete | NA | Yes, grade unknown | NA |
P17 Turkish patient15 | c.66dupC; c.66dupC | Light brown, lighter than family | 1.0/1.0 | Yes | Yes | Grade 1 | Yes, grade unknown | NA |
P18 Turkish15 | c.66dupC; c.66dupC | Light brown | NA | Yes | Yes | Grade unknown | Yes, grade unknown | NA |
