Contributor: Gordon K. Klintworth
Human oculocutaneous albinism type 1 (OMIM #203100) is one variety of oculocutaneous albinism that has been mapped to human chromosome 11 (11q14-q21).  It is characterized by diminished pigmentation of the skin, hair, and eyes. There is also an abnormal macula (macular hypoplasia [hypoplasia - macula] with abnormal vascular pattern), nystagmus, transparent irises, photophobia and a defective decussation of nerve fibers in the optic chiasm. Visual acuity is also decreased and factors that probably contribute to visual impairment include light scatter, light-induced damage to the retina, macular hypoplasia, and abnormal retinogeniculostriate projections. Several variants of oculocutaneous albinism type 1 are recognized (albinism - oculocutaneous type 1A, albinism - oculocutaneous type 1B, albinism - oculocutaneous type 1C, albinism - oculocutaneous type 1-TS]. The prevalence of each type also varies in different populations. Oculocutaneous albinism has an autosomal recessive mode of inheritance.