Nitisinone for treatment of oculocutaneous/ocular albinism and for increasing pigmentation

摘要

A method is provided for the treatment of vision problems in a subject suffering from one of various forms of albinism, including, for example, oculocutaneous albinism types OCA1a and OCA1b, as well as ocular albinism type 1, resulting from mutations in the GPR143 gene, as well as the OCA2, OCA3 or OCA4 genes, by administering to the subject a pharmaceutical composition comprising a therapeutically effective amount of the compound (2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione), also known as NTBC for a sufficient period of time. The administration of NTBC is believed to increase the amount of pigmentation in the subject and alleviate certain symptoms caused by lack of pigmentation in the eye tissues. Also described are methods of use of NTBC for increasing the pigmentation of a subject for cosmetic purposes, by administering to the subject a therapeutically effective amount of NTBC.

主权项

1. A method of increasing visually discernible pigmentation in an iris of a subject, the method comprising administering to the subject a pharmaceutical composition comprising (a) 2-(-2-nitro-4 trifluoromethylbenzoyl)-1,3 cyclohexanedione (NTBC) or a pharmaceutically acceptable salt, hydrate, or solvate thereof, and (b) a pharmaceutically and physiologically acceptable carrier in an amount effective to increase the number of pigmented melanosomes in the iris and increase visually discernible pigmentation in the iris of the subject.