Conditions / Syndrome
oculocutaneous albinism type VI
info · Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1.
Signs and symptoms
- Nystagmus
- Fair hair
- Hypoplasia of the fovea
- Photophobia
- Reduced visual acuity
- Visual impairment
- Generalized hypopigmentation