Albinism in humans
Albinism is a congenital disorder characterized in humans by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells leading to increased susceptibility to infection.
The most recognizable form of albinism results in white hair and very light-colored skin compared with siblings. Skin coloring (pigmentation) and hair color can range from white to brown, and may be nearly the same as that of parents or siblings without albinism.
With exposure to the sun, some people may develop: Freckles, Moles, with or without pigment — moles without pigment are generally pink-colored, Large freckle-like spots (lentigines) and Sunburn and the inability to tan.
Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that's yellow, reddish or brown. Hair color may also darken by early adulthood or stain from exposure to normal minerals in water and the environment, and appear darker with age. Eyelashes and eyebrows are often pale. Eye color can range from very light blue to brown and may change with age.
Vision impairment is a key feature of all types of albinism. Eye problems and issues may include: Rapid, involuntary back-and-forth movement of the eyes (nystagmus), Head movements, such as bobbing or tilting the head, to try to reduce the involuntary eye movements and see better, Inability of both eyes to stay directed at the same point or to move in unison (strabismus), Extreme nearsightedness or farsightedness, Sensitivity to light (photophobia) and Abnormal curvature of the front surface of the eye or the lens inside the eye (astigmatism), which causes blurred vision.
A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and leads to albinism.
The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor or an electroretinogram test. This test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.
There’s no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Treatment may include: sunglasses to protect the eyes from the sun’s ultraviolet (UV) rays, protective clothing and sunscreen to protect the skin from UV rays, prescription eyeglasses to correct vision problems and surgery on the muscles of the eyes to correct abnormal eye movements.
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The Ophthalmologist: Clinical and Therapeutic Journal