Oculocutaneous albinism type 6

Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the <i>SLC24A5</i> gene (15q21.1).

Photophobia

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.


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