Tyrosinase negative oculocutaneous albinism

This code identifies a specific genetic disorder characterized by a complete absence of melanin pigment in the skin, hair, and eyes due to a defect in the tyrosinase enzyme pathway. Individuals present with white hair, very pale skin, and blue or translucent irises, often accompanied by significant visual impairment such as nystagmus and photophobia.

Apply this code for patients diagnosed with oculocutaneous albinism type 1A (OCA1A), confirmed by genetic testing or clinical presentation consistent with a complete lack of tyrosinase activity. Documentation should explicitly state "tyrosinase negative" or "OCA1A" to support its use.

• Differentiate from other types of oculocutaneous albinism (e.g., tyrosinase positive) which have distinct codes.
• Ensure documentation specifies the tyrosinase status; "oculocutaneous albinism, unspecified" is a different code.
• Code any associated visual impairments (e.g., nystagmus, photophobia, reduced visual acuity) separately as secondary diagnoses.