Article
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
The Journal of clinical investigation - 1 Oct 2011
Onojafe Ighovie F, Adams David R, Simeonov Dimitre R, Zhang Jun, Chan Chi-Chao, Bernardini Isa M, Sergeev Yuri V, Dolinska Monika B, Alur Ramakrishna P, Brilliant Murray H, Gahl William A, Brooks Brian P
Abstract excerpt
Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former...
Topics
- Albinism, Oculocutaneous
- Animals
- Cyclohexanones
- Disease Models, Animal
- Enzyme Inhibitors
- Enzyme Stability
- Eye Color
- Female
- Humans
- Melanins