Conditions / Syndrome
oculocutaneous albinism type VII
info ยท Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.
Signs and symptoms
- Nystagmus
- Iris transillumination defect
- Reduced visual acuity
- Albinism
- Photophobia
- High hypermetropia
- Esotropia
- Exotropia
Also known as: OCA7