Albinism

Albinism is a group of inherited conditions that reduce or eliminate melanin production. It affects pigmentation in the skin, hair, eyes, or other tissues and often alters vision.

Melanin: A group of pigments produced by specialized cells that color skin, hair, and eyes and help protect tissues from ultraviolet radiation. Reduced melanin production is the defining biological feature of albinism.
Oculocutaneous albinism: A group of inherited albinism conditions affecting pigmentation in the skin, hair, and eyes. It is the broadest major form and includes several genetically distinct subtypes.
Oculocutaneous albinism type 1: A form of oculocutaneous albinism caused by pathogenic variants in the TYR gene. Its spectrum ranges from very little melanin to some pigment production.
Visual acuity: A measure of the eye's ability to distinguish fine detail at a specified distance. It helps assess the functional effect of foveal and optic-pathway development in albinism.
Albinism in Africa: The varied social, medical, and cultural experiences of people with albinism across African countries and communities. Some regions face severe violence and discrimination, alongside local advocacy and support.
Melanocyte: A pigment-producing cell that synthesizes melanin and transfers it to nearby cells. Albinism-related gene changes can disrupt melanin synthesis within these cells.
Ocular albinism: An inherited form of albinism in which pigmentation differences mainly affect the eyes. Its predominantly ocular effects contrast with forms affecting skin and hair as well.
Oculocutaneous albinism type 2: A form of oculocutaneous albinism caused by variants in the OCA2 gene. It is a common subtype whose pigmentation can vary across individuals and populations.
Optical coherence tomography: An imaging method that produces cross-sectional views of structures within the eye. It can reveal foveal underdevelopment associated with albinism.
Under the Same Sun: An organization founded to promote the rights and well-being of people with albinism, particularly in Tanzania. Its work responds to discrimination and attacks affecting people with albinism.

Linked from 9 pages