What Is Albinism?
Source: Genetic and Rare Diseases (GARD) Information Center
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Albinism
Albinism is a group of inherited disorders that results in little or no production of the pigment melanin. Melanin is a natural substance in the body that gives color to your hair, skin, and iris of the eye. The 2 main types of albinism are oculocutaneous albinism (OCA) and ocular albinism (OA). Learn more about the genetics of these conditions.
Male and Female with Albinism
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Albinism
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Source: Genetic and Rare Diseases (GARD) Information Center
Laws of Inheritance
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Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.
Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.
The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.
Source: MedlinePlus Genetics
Black man standing behind back of albino woman
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Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner. Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.
Source: Genetic and Rare Diseases (GARD) Information Center
Laws of Inheritance
Image by CNX Openstax
Source: Genetic and Rare Diseases (GARD) Information Center
Genetic Testing
Also called: DNA Testing, Mutation Screening, Genetic Test
Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Albino baby
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The goal of treatment is to address the symptoms present in each individual. People with albinism should protect their skin and eyes from the sun. This can be done by:
Individuals with vision problems may need corrective lenses. They should also have regular follow-up exams with an ophthalmologist. In rare cases, surgery may be needed. Individuals with albinism should also have regular skin assessments to screen for skin cancer or lesions that can lead to cancer.
Source: Genetic and Rare Diseases (GARD) Information Center
Albinism
Image by Eyasu Etsub/Unsplash
Source: Genetic and Rare Diseases (GARD) Information Center
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