• Genes controlling development and differentiation of pigment cells (melanocytes). Mutation of these genes, such as MITF, may be associated with deafness, but not usually with ocular defects.

• Genes encoding components of melanosomes (pigment producing organelles within melanocytes). Mutation of these genes affects skin pigmentation and vision pathways producing albinism.

• Genes controlling biogenesis of lysosome related organelles (LROs) including melanosomes. Mutations cause Hermansky-Pudlak (HPS) and Chediak-Higashi (CHS) syndromes which have ocular features of albinism.

• Genes involved in organelle transport, including LROs. Mutations cause Griscelli’s immunodeficiency syndromes and Elejalde’s syndrome, both with normal eyes.

• Genes involved in switching between eumelanin (brown and black pigment) and pheomelanin (red and yellow pigment) such as melanocortin 1 receptor protein alter the phenotype of albinism but mutation does not cause albinism.

• Avoid concern that a child will be blind. Delayed vision maturation is common in albinism (see Chapter 4). Nystagmus is often misinterpreted as roving eye movements. The prognosis for many children with albinism is of severe vision impairment, with corrected distance acuity of logMAR 1.0. However, they will see to read, even small print, albeit at a reduced distance and be able to navigate well. Except in one very rare form albinism is not degenerative.

• Avoid concern that nystagmus is a sign of neurologic or progressive retinal disease. The majority will be healthy and have no intellectual impairment.

• Give advice on promotion of best vision outcome, ocular comfort in bright lighting, and skin protection.

• Be aware of the subtypes that may be associated with impaired platelet and immune function. Rarely, an infant will present with features of albinism and retinal hemorrhages after minimal head trauma, even birth, with Hermansky-Pudlak albinism. Standard coagulation screening may miss this diagnosis.²