Oculocutaneous albinism (OCA) type 2 in individuals of sub-Saharan African heritage is most commonly caused by a 2.7 kb deletion in the OCA2 gene. Other mutations are responsible for OCA2 in individuals of non-African heritage. Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the skin and hair. Eye findings include nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerve fiber radiations at the chiasm, associated with strabismus, reduced stereoscopic vision, and altered visual evoked potentials (VEP).
This laboratory performs Sanger sequencing of the OCA2 gene as well as deletion analysis for the 2.7 kb deletion common in the sub-Saharan African population.