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Albinism

Definition


Disease: Albinism Albinism
Category: Genetic Diseases

Disease Definition:

Albinism, which is a group of inherited disorders, results in little or no production of the pigment melanin. Most people with albinism are sensitive to sun exposure and are at an increased risk of developing skin cancer. The color of the skin, hair and eyes are determined by the type and amount of melanin the body produces. This melanin also plays a role in the development of certain optical nerves. Albinism, with all its forms causes problems with the development and function of the eyes.

 

It is true that albinism doesn't limit intellectual development, but people suffering from this condition often feel socially isolated and may experience discrimination. Though there is no cure for albinism, certain steps can be taken to improve vision and avoid excessive sun exposure.
 

Work Group:


Symptoms, Causes

Symptoms:

Usually, but not always, the signs and symptoms of albinism are apparent in a person's skin, hair and eye color. All people with this condition experience vision impairments, regardless of the effect of albinism on appearance.

 

SKIN:

The skin pigmentation of someone with this disorder can range from white to nearly the same as parents or siblings without albinism, though the most recognizable form of albinism results in milky white skin. Although for some people skin pigmentation never changes, but for others melanin production may begin to increase during childhood and adolescence, resulting in slight changes in pigmentation. With exposure to the sun some people may develop:

 

  • Moles, with or without pigment
  • Freckles
  • Large freckle-like spots (lentigines)
  • The ability to tan

 

HAIR:

Hair color can range from brown to very white. People with this disorder, who are of African or Asian descent, may have hair color that is yellow, reddish or brown. This color may also change by early adulthood.

 

EYE COLOR:

It can range from very light blue to brown and may change with age.
The eyes of someone with albinism may look translucent due to the lack of pigment in the colored parts (irises). This translucence will make very light-colored eyes appear red in some lighting because the irises won't be able to completely bock light from entering the eye. Red eye occurs because a person is seeing light reflected off the back of the eye and passing back out through the iris again, which is similar to red eye that occurs in a flash photograph.

 

VISION:

The signs and symptoms of albinism that are related to eye function include:

 

  • Extreme nearsightedness or farsightedness
  • Rapid and involuntary back-and-forth movement of the eyes (nystagmus)
  • Astigmatism
  • Inability of both eyes to stay directed at the same point or to move in unison (strabismus)
  • Sensitivity to light (photophobia)

 

If a child lacks pigment is his\her hair or skin at birth, as is often the case in infants with albinism, an eye examination will be ordered and any changes in the child's pigmentation will be closely followed.

 

For some infants, a rapid back-and-forth shifting (nystagmus) of the eyes is the first sign of albinism, especially if their family is mostly fair, or if the type of albinism has little effect on pigmentation. If nystagmus is noticed in a child's eyes, the doctor should be contacted. The doctor should also be contacted in case a child experiences frequent nosebleeds, easy bruising or chronic infections, because these signs and symptoms may indicate the presence of Chediak-Higashi or Hermansky-Pudlak syndromes.
 

Causes:

A mutation in one of the several genes that provide the chemically coded instructions for making one of several proteins involved in the production of melanin causes albinism. Melanocytes, which are found in the skin and eyes, produce melanin. A mutation can result in a significant decline in the amount of melanin or in no melanin production at all. In order to have albinism, a person must inherit two copies of a mutated gene; one from each parent. If only one copy is inherited, then he\she will not have the disorder.

 

THE IMPACT OF MUTATIONS ON EYE DEVELOPMENT:

Vision impairment is a common characteristic with all types of albinism, regardless of the gene mutation. Abnormal development of the retina and the irregular development of the nerve pathways from the eye to the brain cause these impairments.

 

TYPES OF ALBINISM:

The system for classifying the types of albinism is based on which mutated gene is causing the disorder, rather than how it's manifested. However, each type of albinism has features that distinguish them from each other. The types of albinism are:

 

Oculocutaneous albinism:

A mutation in one of four genes causes this type of albinism, resulting in signs and symptoms that are related to vision (ocular), skin (cutaneous), hair and iris color. Oculocutaneous albinism 1 is caused by a mutation in a gene on chromosome 11. Mostly, people with this type of the disorder have milky white skin, white hair and blue eyes at birth. Although some people with this disorder never experience changes in pigmentation, however, others start producing melanin during childhood and adolescence. Their hair may become a golden blond or brown and although their skin may tan somewhat, but it usually doesn't change color. The irises may also change color and lose some of their translucence.

 

Oculocutaneous albinism 2:

This condition is caused by a mutation in a gene on chromosome 15 and is most common in African-Americans and Sub-Saharan Africans. If someone has this type of the disorder, their hair may be yellow, auburn, ginger or red; their eyes may be blue-gray or tan; with white skin. If the person is of African descent, their skin may be light brown and if the person is of Asian or Northern European descent, their skin is usually white. The skin color is generally close to the family's coloring, but a little bit lighter. The skin may develop freckles, moles or lentigines over time with sun exposure.

 

Oculocutaneous albinism 3:

This condition, which is caused by a gene mutation on chromosome 9, is rarer. It has been identified primarily in black South Africans. People with this disorder usually have reddish-brown skin, ginger or reddish hair and hazel or brown eyes.

 

Oculocutaneous albinism 4:

This form of albinism is caused by a gene mutation on chromosome 5. It generally shows signs and symptoms similar to those of type 2, but much rarer. People of Japanese descent usually develop this type of albinism.

 

Hermansky-Pudlak syndrome:

This rare type is caused by one of at least seven mutated genes. People with this condition develop lung and bowel diseases as well as a bleeding disorder, along with the signs and symptoms of oculocutaneous albinism.

 

X-linked ocular albinism:

A gene mutation on the X chromosome causes this type of the disorder and occurs almost exclusively in males. The skin, hair and eye color of people with this type of albinism are usually normal or slightly lighter than that of others in their family, but they have the developmental and functional vision problems of albinism.

 

Chediak-Higashi syndrome:

This rare form of albinism is caused by a mutation in a gene on chromosome 1. In this type, the hair is usually brown or blond with a silvery sheen, and the skin is usually grayish or creamy white. People with this syndrome show signs and symptoms that are similar to those of oculocutaneous albinism and they also have a defect with white blood cells that increases their risks of infections.
 

Complications

Complications:

Physical risks and social and emotional challenges are the complications of albinism. Sunburn and skin cancer are the most serious complications associated with albinism. Long-term exposure to the sun may also cause pachyderma, a condition in which the skin becomes rough, thick and coarse.

 

When it comes to social and emotional factors, the reactions of other people to those with albinism can often have a negative impact on people with the condition. People who have albinism find the word "albino" hurtful because they're being labeled simply on the basis of a condition rather than being thought of as individuals. Many children experience teasing, name-calling or questions about their appearance, eyewear or visual aid devices.

 

Usually, people with albinism look quite different from members of their own families or ethnic groups and so they either feel like outsiders, or are treated like ones. All these factors contribute to poor self-esteem, stress and isolation.
 

Treatments:

Treatments for people with albinism are limited because this condition is a genetic disorder. In order to provide improvements in vision, a child should receive annual examinations by an ophthalmologist and wear prescription lenses. A person may be recommended surgery on optical muscles that minimize nystagmus or even surgery to correct strabismus and make the condition less noticeable, though it won't improve vision. Despite this, surgery is rarely part of the treatment for albinism.

 

To prevent further complications, people with Hermansky-Pudlak and Chediak-Higashi syndromes require specialized care. An annual assessment will also be conducted of the child's skin to screen for skin cancer or lesions that can lead to cancer. Adults with albinism will have to have annual eye and skin exams throughout their lives.
 

Prognosis:

Not available

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