(1997; 132 pages) [French] [Spanish]
Albinism is an autosomal recessive inherited disorder. It is characterized by the absence of pigment in the skin, hair and eyes due to the absence or defect of tyrosinase, an enzyme that catalyses the oxidation of tyrosine, a precursor of melanin. It is associated with astigmatism, photophobia and nystagmus and sometimes with mental impairment. Patients are at risk of skin damage from sunlight and usually develop cutaneous malignancies at an early age.
There is no effective therapy other than total avoidance of direct sunlight from early childhood.