albinism oculocutaneous type 3

albinism oculocutaneous type 3

An 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.

Ophthalmic findings
Red reflex on transillumination, dilution of iris colour, nystagmus and strabismus.
 
Molecular pathology
Defects of TYRP1 cause rufous oculocutaneous albinism and oculocutaneous albinism type 3.