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| Fig. 18.2 Albino African-American boy with generalized hypopigmentation. |
Albinism is a group of inherited disorders of the melanin pigment system. All forms are autosomal recessive. In oculocutaneous albinism type 1 (OCA1), there is a defect in the enzyme tyrosinase with an absence in melanin synthesis. Generally, albinism presents as depigmented or hypopigmented skin and hair, nystagmus, photophobia, and decreased visual acuity (Fig. 18-2). There are four different forms of oculocutaneous albinism. Some forms affect the skin, hair, and eyes (oculocutaneous albinism); other forms primarily affect the eyes (ocular albinism). There is no treatment available for albinism.
