Oculocutaneous albinism type 8 (OCA8) is characterized by:
- moderate hypopigmentation of the skin, hair and eye
- increased risk of skin cancer
- classical ocular features encountered in all forms of albinism, including
• nystagmus
• foveal hypoplasia
• iris transillumination
• retinal hypopigmentation
• reduced visual acuity
• photohobia
• strabismus
• ametropia
Clinical signs are generally moderate in OCA8. The number of patients (n=6, including 3 from the same family) described to date is small however; hence it is hard to draw any firm conclusion about severity.