Contributor: Gordon K. Klintworth
Oculocutaneous albinism type 1C (platinum albinism) is a distinct inherited type of oculocutaneous albinsm with an autosomal recessive mode of inheritance. It is one of at least 10 distinct types with diminished pigmentation of the skin, hair, and eyes. Affected persons with this type of albinism have 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 decreased and factors that probably contribute to visual impairment include light scatter, light-induced damage to the retina, macular hypoplasia, and abnormal retinogeniculostriate projections.