Article

Systemic, RPE-directed AAV- <i>Tyrosinase</i> therapy restores ocular pigmentation in an OCA1 mouse model

2026-07-02

Abstract excerpt

Oculocutaneous albinism type 1 (OCA1) is a pigmentation disorder caused by biallelic tyrosinase ( TYR ) mutations, an essential enzyme for melanin synthesis. TYR inactivity results in loss of hair, skin, and eye pigment, which is detrimental for ocular function. Hypopigmentation of iris, retinal pigment epithelium (RPE), and choroid results in severe photosensitivity and low visual acuity. There are currently no...

Identifiers and source

Literature Corpus work: 1aaa6214-bbfa-59a1-8a65-1dc65e2a476c
DOI: 10.64898/2026.07.01.735814

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