Decreased vision. Photosensitivity in some patients.

Best-corrected visual acuity ranging from 20/40 to 20/400. May have refractive error, strabismus, reduced stereopsis, pendular nystagmus, amblyopia secondary to strabismus or anisometropia, iris transillumination defects, fundus hypopigmentation with highly visible choroidal vasculature, and foveal hypoplasia with or without failure of the retinal vessels to properly surround the fovea.

NOTE Patients with albinism show a wide range of visual acuities, refractive errors, nystagmus, and amblyopia.

Oculocutaneous albinism is a group of autosomal recessive conditions caused by mutations in enzymes or membrane proteins crucial for melanin synthesis. The phenotype varies based on residual enzyme activity, influencing skin, hair, and iris pigmentation, with the severity of visual impairment often correlating with the degree of nystagmus and lack of pigmentation.

Associated Disorders

• Hermansky–Pudlak syndrome: An autosomal recessive disorder characterized by platelet dysfunction leading to easy bruising and bleeding; some individuals also have pulmonary fibrosis or colitis. More common in patients of Puerto Rican and Swiss descent. Multiple genes.

• Chédiak–Higashi syndrome: An autosomal recessive disorder affecting white blood cell function, resulting in an increased susceptibility to infections and a predisposition for lymphoma-like malignancy. LYST gene on chromosome 1q42.1–q42.2.

• Multiple other syndromes, some involving deafness or immunodeficiency.

Types

1. Oculocutaneous albinism: Usually autosomal recessive with hypopigmentation of the hair, skin, and eye.

2. Ocular albinism: Only ocular hypopigmentation is readily apparent. Usually X-linked recessive. Female carriers may have partial iris transillumination, patches of skin hypopigmentation, and mottling of the midperipheral and peripheral retinal pigmentation (mud-splattered fundus).

1. History: Easy bruising? Frequent nosebleeds? Prolonged bleeding after dental work? Symptoms of pulmonary fibrosis and/or colitis? Frequent infections? Difficulty hearing? Family history? Puerto Rican or Swiss descent?

2. External examination (including hair and skin color).

3. Complete ocular examination of patient and family members.

4. Check platelet aggregation studies and ultrastructure (especially preoperatively) and polymorphonuclear leukocyte function as indicated based on associated symptoms.  Consult primary care or hematology as needed.

5. Ocular genetics consultation.

There is currently no effective treatment for albinism, but the following may be helpful:

1. Treating amblyopia, strabismus, and refractive error may reduce nystagmus, if present. See 8.5, Amblyopia.

2. Low vision referral when indicated.

3. Eye muscle surgery may be considered for patients with significant strabismus or an abnormal head position due to nystagmus. However, patients with albinism and strabismus rarely achieve binocularity after surgical correction. Surgery to reduce nystagmus may also have benefits.

4. Genetic counseling.

5. Advise ultraviolet sun protection.

6. Hematology consultation as indicated. Patients with Hermansky–Pudlak syndrome may require platelet transfusions before surgery.