Conditions / Syndrome
oculocutaneous albinism type IA
info · Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
Signs and symptoms
- Astigmatism
- Albinism
- Hypopigmentation of hair
- Strabismus
- Nystagmus
- White hair
- Abnormality of refraction
- Photophobia
- Blue irides
- Hypoplasia of the fovea
Also known as: OCA1A; Oculocutaneous Albinism, Tyrosinase-Negative