Albinism is a hereditary disorder of melanin synthesis. Generalized albinism is autosomal recessive; cutaneous albinism is autosomal dominant; and ocular albinism is X-linked recessive.

bubble_chart Etiology

The metabolic pathway of tyrosine conversion to melanin requires tyrosinase and dopa oxidase. In albinism, there is a congenital defect in the enzyme system within melanocytes, preventing the formation of melanin.

bubble_chart Clinical Manifestations

In generalized albinism, the skin, hair, iris, retina, and choroid lack melanin. The skin appears diffusely milky white or light pink, prone to erythema upon sun exposure but without pigmentation. The hair is fine and silvery white or pale yellow. The iris is gray-blue or transparent, the retina lacks pigment, and the pupils appear light red in children, darkening in adulthood. It may be accompanied by photophobia, nystagmus, reduced vision, visual field abnormalities, and strabismus. Cutaneous albinism is limited to the skin and hair, with no ocular involvement. Sometimes, albinotic areas are mottled with normal skin, or only the hair on the forehead is white. Ocular albinism is more common in males, featuring a pigment-deficient fundus, clearly visible choroidal vessels, a transparent iris, and nystagmus.

bubble_chart Treatment Measures

There is no specific treatment. Avoid direct sunlight to prevent burns, and wearing appropriate tinted lenses can alleviate eye discomfort.

bubble_chart Differentiation

Generalized albinism should be differentiated from Chediak-Higashi syndrome, which is an autosomal recessive genetic disorder also characterized by light-colored skin, hair, and iris, as well as photophobia and nystagmus. However, it additionally presents with immune deficiency, susceptibility to infections, a tendency toward cervical malignancy with cachexia, hepatosplenomegaly, and special granules (sea-blue inclusions) in the cytoplasm of granulocytes, along with neurological involvement. Localized cutaneous albinism should be distinguished from acquired vitiligo.