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Albinism is set of inherited conditions that prevent processes essential for the production of color in organisms such as chlorophyll in plants and the dark pigment melanin that, in people, gives color to the skin, hair, and eyes and provides protection from ultraviolet light. Recessive genes (present in about 1 in 70 people) carried by both parents cause albinism, which occurs approximately once in every 17,000 births. Albinism impedes the enzyme tyrosinase from converting tyrosine, an amino acid, into Dihydroxyphenylalanine (DOPA), a chemical essential for producing melanin.
Alternative Names of Albinism are: Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome.
Complications of Albinism
Complications of albinism include physical risks as well as social and emotional challenges.
One of the most serious complications associated with albinism is the risk of sunburn and skin cancer. Long-term exposure to the sun may also cause skin to become coarse, rough and thick (pachyderma).
Social and emotional factors
The reactions of other people to those with albinism can often have a negative impact on people with the condition:
All of these factors may contribute to social isolation, poor self-esteem and stress.
Causes of Albinism
Genetic mutations that affect the production of a pigment called melanin. There is a cell called the melanocyte that is responsible for giving skin, hair, and eyes pigmentation. In albinism, the melanocytes are present, but genetic mutations interfere with their pigment production or their ability to distribute it to keratinocytes, the major cell type comprising the epidermis, or outer layer of the skin. There are currently five known genetic types of albinism, the most common being oculocutaneous type 1 (OCA1) and type 2 (OCA2). Oculocutaneous means affecting the eyes and skin ("oculo" meaning eye and "cutaneous" meaning skin).
Patients with OCA1 have mutations in a gene called TYR that is responsible for creating the enzyme tyrosinase, used by cells to convert the amino acid tyrosine into pigment molecules that color the skin, hair, and eyes. OCA2, the most common form of albinism in Africa, results from a mutation in the OCA2 gene, which encodes the P protein. We don't know what this P protein does.
Signs & Symptoms of Albinism
A person with albinism will have one of the following symptoms:
Many forms of albinism are associated with the following symptoms:
Diagnosis of Albinism
Treatments of Albinism
The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.
Treatment involves protecting the skin and eyes from the sun:
Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).
Prevention of Albinism
Because albinism is inherited, genetic counseling is important. People with a family history of albinism or hypopigmentation should consider genetic counseling.
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