| Sumario: | Background: Oculocutaneous albinism (OCA) is a rare genetic disorder that occurs due to a mutation in one of the genes that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds. Oculocutaneous albinism often presents with nystagmus and pale coloring of the skin and hair. The patient with OCA has normal development, intelligence, fertility, and lifespan. Case Report: A two-month-old female presented with a new-onset intermittent nystagmus. A complete vision exam resulted in a diagnosis of oculocutaneous albinism with nystagmus secondary tofoveal hypoplasia. The findings were discussed with the parents, and a follow-up was scheduled. At the five-month follow-up, the patient was progressing well and had a reduction in the amplitude of her nystagmus. Conclusion: Oculocutaneous albinism is often discovered first with a visit to the eye care professional due to a recent onset of nystagmus. Foveal hypoplasia causes an onset of nystagmus between two and three months. Additional ocular manifestations include reduced visual acuity, strabismus, high refractive error, amblyopia, increased decussation of visual fibers, color vision defects, photophobia, transillumination, and hypopigmentation of the retinal pigmented epithelium. Assistance for the child with OCA consists of correcting the refractive error; amblyopia treatment when necessary; and concurrent physical, occupational, and low vision therapy. Communication and collaboration with other medical specialties is warranted throughout life.
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