Conditions / Syndrome
oculocutaneous albinism type IV
info · Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.
Signs and symptoms
- Albinism
- Hypopigmentation of hair
- Nystagmus
- Blue irides
- Fundus hypopigmentation
- Visual impairment
- Macular hypoplasia
Also known as: OCA4