Albinism

Albinism is a genetic condition that affects the body's ability to produce melanin, the pigment responsible for coloring the skin, hair, and eyes. This condition primarily involves the skin and eyes, leading to very light or white skin and hair, and light-colored eyes. People with albinism often have vision problems because melanin is important for normal eye development. The lack of pigment also makes the skin more sensitive to sunlight and increases the risk of sunburn and skin cancer. Albinism is present from birth and affects people of all ethnic backgrounds. It is caused by mutations in genes that control melanin production.

Albinism is a group of inherited disorders characterized by a congenital deficiency or absence of melanin pigment in the skin, hair, and eyes due to mutations in genes involved in melanin synthesis, such as TYR, OCA2, and others. The core pathology is a defect in the melanogenesis pathway, leading to hypopigmentation and associated ocular abnormalities. The condition is usually inherited in an autosomal recessive pattern. Clinically, it presents with hypopigmented skin and hair, nystagmus, reduced visual acuity, and photophobia. The lack of melanin in the retina and optic nerve pathways causes abnormal visual development, including foveal hypoplasia and misrouting of optic nerve fibers. The major clinical significance includes increased susceptibility to skin cancers and lifelong visual impairment.