Clinical features: The diagnosis of oculocutaneous albinism is made in an individual who has absent or reduced pigment of the skin and hair, together with characteristic visual symptoms and signs including a non-progressive reduction in visual acuity. Two distinct forms, oculocutaneous albinism type 1 (OCA1) and oculocutaneous albinism type 2 (OCA2) can be distinguished clinically.
Inheritance : Autosomal recessive.
Gene:The tyrosinase gene,TYR, on chromosome 11 is the only gene known to be associated with oculocutaneous albinism type 1. The gene OCA2 (previously called the P gene) on chromosome 15 is the only gene known to be associated with oculocutaneous albinism type 2. DNA testing is not routinely available.
Prenatal diagnosis: Although the genes for both OCA1 and OCA2 have been identified, at the time of writing (January 2006), prenatal diagnosis is rarely available. This may change in the future and it is recommended that advice from the local clinical genetics service be sought.
Carrier testing: Rarely available.
Albinism Fellowship PO Box 77 Burnley Lancashire BB11 5GN Tel. (Helpline): 01282 771 900 Web: www.albinism.org.uk