Oculocutaneous Albinism Type 1

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

TYR, CALR, CANX, HSPA5

Drugs

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A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).