Detection of the first OCA6 Italian patient in a large cohort of albino subjects

Oculocutaneous albinism (OCA) is characterized by general hypopigmentation of skin, hair and eye, and by specific ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. Hypopigmentation of the skin causes severe photosensitivity and an increase risk of developing sun-induced skin cancer. Eye and optic system abnormalities include congenital nystagmus, reduced pigmentation of the iris and retinal pigment epithelium, photophobia, foveal hypoplasia, reduced visual acuity and misrouting of the optic nerves, which can result in strabismus and reduced stereoscopic vision [1].

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