Table 3. Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.
| Patient | gender | Age | Clinical features | Gene | Mutations | Diagnosis | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| (year) | Hair color | Skin color | Iris color | Nystagmus | Paternal | Maternal | ||||
| A | M | 4 | White | Milky | Brown | Positive | TYR | c.1114delG (p.G372fsX112) * | c.1037-7T.A, c.1037-10_11delTT | OCA1 |
| B | F | 8 | Blond | White | Green | Positive | OCA2 | c.593C>T(p.P198L) | c.1426A>G(p.N476D) | OCA2 |
| C | F | 2 | White | White | Pink | Positive | TYR | c.896G>A(p.R299H) | c.549_550delGT (p.V184fsX8) * | OCA1 |
| D | F | 4 | White | White | Gray | Positive | TYR | c.985T>C(S329P) | c.832C>T(R278X) | OCA1 |
* A novel mutation.