Quantifying functional vision in a mouse model of oculocutaneous albinism type 1.

Abstract excerpt

Oculocutaneous albinism type 1 (OCA1) is characterized by lack of melanin pigment due to mutations in the tyrosinase gene. Lack of ocular pigment results in retinal developmental anomalies and profound visual deficits. Murine OCA1 models share genotypic and phenotypic similarities with human patients, including loss-of-function tyrosinase mutations that result in systemic hypopigmentation and retinal dysgenesis....

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