albinism oculocutaneous type 3
albinism oculocutaneous type 3An autosomal recessive disorder (OMIM:203290) characterised by reduced synthesis of melanin pigment in skin, hair and eyes, despite normal tyrosinase activity. Darker-skinned individuals have bright copper-red colouration of skin and hair.
Red reflex on transillumination, dilution of iris colour, nystagmus and strabismus.
Defects of TYRP1 cause rufous oculocutaneous albinism and oculocutaneous albinism type 3.