A 6-month-old infant presents with generalized hypopigmentation of skin and hair, nystagmus, and photophobia. Genetic testing reveals a mutation in the *TYR* gene. This clinical presentation is most consistent with which type of albinism?

Explanation

Oculocutaneous albinism type 1 (OCA1) is caused by mutations in the *TYR* gene, which encodes tyrosinase, a key enzyme in melanin synthesis. Patients with OCA1 typically present with severe hypopigmentation of skin, hair, and eyes, along with ocular features like nystagmus, photophobia, and reduced visual acuity. OCA2 is caused by mutations in the *OCA2* gene (P gene), OA1 is X-linked and primarily affects the eyes, and Hermansky-Pudlak syndrome is a rare autosomal recessive disorder associated with bleeding diathesis and pulmonary fibrosis in addition to albinism.