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
• photophobia
• 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.
Prevalence:
OCA8 is a very rare form of albinism. It represents less than 1% of all cases. If one considers that the worldwide prevalence of albinism is 1/17000, then OCA8 is <1/1,700,000.
Inheritance:
Autosomal recessive.
DCT