Conditions / Syndrome
oculocutaneous albinism type II
info · Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.
Signs and symptoms
- Albinism
- Strabismus
- Hypopigmentation of hair
- Red hair
- Hypopigmentation of the skin
- Nystagmus
- Hypoplasia of the fovea
- Blue irides
- Fundus hypopigmentation
- Reduced visual acuity
Also known as: OCA2; Oculocutaneous Albinism, Tyrosinase-Positive