Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterised by a reduction or complete lack of melanin pigment in the skin, hair and eyes.These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialised cells called melanocytes. Absent or insufficient melanin pigment results in abnormal development of the eyes, resulting in vision abnormalities, and light skin that is very susceptible to damage from the sun including skin cancer. Visual changes include nystagmus (involuntary side to side eye movement), strabismus and photophobia (sensitivity to light).
Other changes include foveal hypoplasia (which affects visual acuity) and mis-routing of the optic nerves. All individuals with OCA have the above visual changes but the amount of skin, hair and iris pigment can vary depending on the gene (or type of…
