More Than Skin Deep: Genetics, Clinical Manifestations, and Diagnosis of Albinism

Although albinism may be considered a simple diagnosis, its clinical manifestations, which include hypopigmenta- tion of the skin, hair, and eyes and ocular abnormalities such as nystagmus and reduced visual acuity, are often subtle and initially missed. In oculocutaneous albinism, there is wide phenotypic variability, which correlates with specific mutations in genes with roles in melanin biosynthesis. Additionally, syndromic forms of albinism such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome are associated with serious complications such as bleeding abnormalities, lysosomal storage defects, immunodeficient states, and progressive neurologic defects, which all can result in mortality. It is critical to confirm a suspicion of albinism and perform an  appropriate workup involving molecular testing in order to establish a diagnosis. Given the various subtypes of oculocutaneous albinism and the life-threatening complications in syndromic forms of albinism, a diagnosis permits proper genetic counseling and timely implementation of necessary screenings and treatments. Recommendations regarding sun exposure and treatment of ocular abnormalities are imperative in oculocutaneous albinism, and preventive therapies should be implemented in syndromic forms. With knowledge of the differential in conjunction with the execution of simple diagnostic tests, many of these complications can be predicted and consequently ameliorated or prevented.