TYR AR unreviewed
Oculocutaneous albinism
Melanin synthesis
Enzyme or protein defect
Tyrosinase
Accumulates or becomes deficient
Absent melanin
Key features
Hypopigmentation of skin/hair/eyes, photophobia, nystagmus, high skin cancer risk
Management
Sun protection
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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