Albinism in humans

Albinism in humans is a group of genetic disorders characterized by a lack of pigment in the skin, hair, and eyes. It results from a mutation in one of several genes responsible for the production of the pigment melanin.

Albinisitic man portrait

Types of Albinism

• Several types of albinism have been identified in humans, each related to a different genetic mutation:
• Oculocutaneous Albinism (OCA): This is the most common type of albinism. It affects the skin, hair, and eyes. There are several subtypes of OCA, named OCA1 through OCA7, depending on the specific gene affected.
• Ocular Albinism (OA): This type primarily affects the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.
• Hermansky-Pudlak Syndrome (HPS): This is a form of albinism associated with a bleeding disorder, as well as lung and bowel diseases.
• Chediak-Higashi Syndrome: This is a rare form of albinism that's associated with a number of other symptoms, including immune problems and issues with the nervous system.

Symptoms and Diagnosis

• The primary sign of albinism is a lighter-than-normal skin tone. Other signs may include:
• Light-colored hair, which may range from white to brown
• Light-colored eyes, which may range from blue to brown. They may also appear red under certain lighting conditions due to the blood vessels inside the eye.
• Vision issues, including nystagmus (involuntary eye movement), strabismus (misalignment of the eyes), and photophobia (sensitivity to light)
• Albinism is usually diagnosed through genetic testing, which can identify mutations in the genes associated with this condition.

Treatment and Management

• There is no cure for albinism, but treatments are available to manage its symptoms and prevent sun damage. These include:
• Wearing sunglasses and sun-protective clothing to guard against UV rays
• Regular skin check-ups to detect skin cancer early
• Visual aids and specialized education for children with vision problems

Social and Psychological Impact

Individuals with albinism can face social and psychological challenges due to their appearance and vision problems. They may experience discrimination or social stigma, particularly in communities where albinism is poorly understood.

See Also

• Genetic disorder
• Melanin
• Genetic testing

References

• Grønskov, K., Ek, J., & Brondum-Nielsen, K. (2007). Oculocutaneous albinism. Orphanet Journal of Rare Diseases, 2(1), 1-12.
• Summers, C. G. (2009). Albinism: classification, clinical characteristics, and recent findings. Optometry and Vision Science, 86(6), 659-662.

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