albinism oculocutaneous type 3(redirected from Rufous Oculocutaneous Albinism)
Also found in: Acronyms.
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.