Tyrosinase positive oculocutaneous albinism

This code identifies a congenital disorder characterized by a generalized lack of melanin pigment in the skin, hair, and eyes, specifically due to a defect in the tyrosinase enzyme pathway. Individuals present with white hair, very pale skin, and ocular abnormalities such as nystagmus, photophobia, and reduced visual acuity.

Use this code for patients diagnosed with oculocutaneous albinism where genetic testing or clinical presentation confirms the tyrosinase-positive subtype. This diagnosis is typically made by an ophthalmologist or geneticist based on clinical findings and, often, molecular testing. Documentation should clearly state "tyrosinase positive" or "OCA type 1B."

• Differentiate from other types of oculocutaneous albinism (e.g., tyrosinase negative, OCA type 2) which have distinct codes.
• Ensure documentation specifies the "tyrosinase positive" subtype; otherwise, an unspecified albinism code may be more appropriate.
• Code any associated ocular complications (e.g., nystagmus, strabismus, severe myopia) separately.