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Article

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

23 Jan 2019

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) results in reduced melanin synthesis, skin hypopigmentation, increased risk of UV-induced malignancy, and developmental eye abnormalities affecting vision. No treatments exist. We have shown that oral nitisinone increases ocular and fur pigmentation in a mouse model of one form of albinism, OCA-1B, due to hypomorphic mutations in the Tyrosinase gene. METHODS: In this...

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PMID: 30674731
DOI: 10.1172/jci.insight.124387

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