Description

The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). The GOOSE is a group of disorders that are passed down in families where the body produces little or nothing of a substance called melanin. The type and amount of melanin in the body determines the color of their skin, hair, and eyes. Melanin also plays a role in the development and function of the eyes, so people with albinism have vision problems.

The symptoms of albinism are usually seen in the skin of a person, hair and eye color, but sometimes the differences are slight. People with albinism are also sensitive to the effects of the sun, so that they are at higher risk of getting skin cancer.

Although there is no cure for albinism, people with the disorder can take steps to protect your skin and eyes, and get right to the eyes and skin care.

Symptoms

The symptoms of albinism involving the skin, hair, and eye color, as well as the vision.

Skin

The easiest way of albinism to see the results in white hair and very light skin color compared with your siblings or other relatives of blood. But the coloration of the skin, also called the pigmentation and the color of the hair can vary from white to brown. People of African descent who have albinism may have skin that is brown or red-brown, and has freckles. For some people, the color of the skin may be almost the same as that of the parents or siblings, without albinism.

With exposure to the sun, some people may develop:

  • Freckles.
  • Mol, with or without color, sometimes are pink.
  • Large freckle-like spots called lentigines (len-TIJ-ih-neez).
  • The sun burns and no ability to tan.

For some people with albinism, the color of the skin, it never changes. For others, the production of melanin can start or increase during childhood and adolescence, which results in a slight change of color.

Hair

Hair Color can vary from white to brown. People of African or Asian who have albinism can have the hair color that is yellow, red, or brown. The hair color can also darken at the beginning of adulthood. Or the hair can stain contact with minerals in water and the environment, making the hair look darker with age.

The color of the eyes

The eyelashes and the eyebrows are often pale. The color of the eyes can vary from very light blue to brown, and may change with age.

With albinism, the color of the parts of the eye, called the iris, usually do not have enough pigment. This allows the light to shine through the lilies and makes the eyes extremely sensitive to bright light. Because of this, very light color of the eyes may appear red in some lighting.

The vision

Vision problems are a key feature of all types of albinism. Eye problems may include:

  • Quick, back-and-forth movement of the eyes that can not be controlled, called nystagmus.
  • A rare position of the head or the head of the posture, as the tilt of the head to try to reduce the movements of your eyes, and see better.
  • Eyes that can't look in the same direction, at the same time, or appear to be crossed, a condition called strabismus.
  • Trouble seeing objects that are up close or far away objects, called farsightedness or nearsightedness.
  • Extreme sensitivity to light, which is called photophobia.
  • A difference in the curve of the front surface of the eye or the lens inside the eye, called astigmatism, which causes blurred vision.
  • The differences in the development of the thin layer of tissue on the inside of the back wall of the eye, called the retina. This difference results in decreased vision.
  • Nerve signals from the retina to the brain that do not follow the usual pathways of nerve fibers in the eye. This is called a misrouting of the optic nerve.
  • Poor depth perception, which means not being able to see things in three dimensions and judge how far away an object is.
  • Legal blindness of vision less than 20/200 or complete blindness.

When to see a doctor

In the birth of his son, the doctor may notice a lack of color in the hair or the skin that affects the eyelashes and eyebrows. The supplier is likely that the purpose of an eye examination and follow closely the changes in her son, the color of the skin and vision.

If you notice any signs of albinism on your baby, talk with your health care provider.

Contact your health care provider if your child with albinism experiences frequent nosebleeds, easy bruising or long-term infections. These symptoms may suggest a rare but serious inherited diseases that include albinism.

Causes

Several genes provide instructions for making one of several proteins that are involved in the production of melanin. The melanin is produced by cells called melanocytes which are found in the skin, hair, and eyes.

Albinism is caused by a change in one of these genes. Different types of albinism can occur, mainly on the basis that the gene change that causes the disorder. The change in the gene can result in that there is no melanin at all, or a large decrease in the amount of melanin.

Types of albinism

Types of albinism are grouped based on how they are transmitted in families and in the affected gene.

  • Oculocutaneous albinism (OCA), the most common type, means that a person has two copies of an altered gene — one from each parent. This is called autosomal recessive inheritance. The GOOSE is the result of a change in one of the eight genes, with the label of OCA1 to OCA8 . OCA causes a decrease of pigment in skin, hair, and eyes, as well as vision problems. The amount of pigment varies according to the type. The resulting color of the skin, hair and eyes also varies within the types.
  • Ocular albinism is limited mainly to the eyes, causing vision problems. The most common form of ocular albinism is of type 1. This type is passed by a change in the gene on the x-chromosome X-linked ocular albinism can be transmitted from a mother to one changes X gene to your child. This is called X-linked recessive inheritance. The Ocular albinism usually occurs only in males. It is much less common than the OCA .
  • Albinism associated with rare hereditary syndromes can occur. For example, the Hermansky-Pudlak syndrome includes a form of OCA , as well as bleeding and bruising problems and lung and intestinal diseases. Chediak-Higashi syndrome includes a form of OCA , as well as immune system problems with recurrent infections, problems with the brain and nerves, clotting disorders, and other serious problems.

Risk factors

Risk factors depend on whether one or both parents are carriers of a gene affected. Different types of albinism have different types of inheritance patterns.

Complications

Albinism can include skin and eye complications. You can also include social and emotional challenges.

Eye complications

Vision problems can affect learning, employment and the ability to drive.

Skin complications

People with albinism have skin that is very sensitive to light and the sun. Sunburn is one of the most serious complications of albinism. Exposure to the sun can cause sun damage, which can result in gross and thickening of the skin. Sunburn may also increase the risk of developing skin cancer.

Due to the lack of pigment in the skin, a type of skin cancer called melanoma may appear as pink or red growths or moles, in place of the usual black or brown in color. This can make skin cancer more difficult to identify at an early stage. Without a careful and regular examinations of the skin, melanoma may not be diagnosed until it is advanced.

Social and emotional challenges

Some people with albinism may experience discrimination. The reactions of other people to people with albinism can have a negative impact on people with the condition.

People with albinism may experience harassment, teasing, spam, or questions about your appearance, glasses, or visual aid tools. Can seem different from members of their own families or ethnic groups, so that it can feel like strangers or to be treated as foreigners. These experiences can cause social isolation, low self-esteem and stress.

The use of the term "person with albinism" is preferable to avoid the negative impact of the other terms.

Prevention

If a family member has albinism, a genetic counselor can help you understand the type of albinism, and the chances of having a child with albinism. The counselor can explain the available genetic tests.

Diagnosis

Diagnosis of albinism is based on:

  • A physical examination that includes checking of the skin and hair pigmentation.
  • A comprehensive eye exam.
  • The comparison of your child pigmentation to that of other members of the family.
  • Review your child's medical history, including whether there has been any bleeding that will not stop, frequent or large hematomas, or unexpected infections.

A specialist in vision and eye disorders called an ophthalmologist, usually, you must make your child's eye exam. The examination includes an evaluation of the use of tools to search the retina, and to determine if there are signs of issues with the development of the eye or of the function.

Genetic testing can help determine the type of albinism and the risk of transmitting the gene to change the children.

Treatment

Albinism is a genetic disorder, and there is currently no cure. The treatment focuses on getting proper eye care and follow-up from the skin to the problems. Your care team may include your primary care provider, specialist in eye care, call an eye doctor and a specialist in skin care, called a dermatologist.

A genetic specialist can help identify the specific type of albinism. This information can help guide the care, identify potential complications, and to determine the risk of the condition in the future of children.

Generally, treatment includes:

  • Care of the eyes. This includes the receipt of an eye exam at least every year by an ophthalmologist. It is likely that you need prescription lenses to help with the visions of the problems. Although surgery is rarely part of the treatment for eye problems associated with albinism, your ophthalmologist may recommend surgery on the eye muscles to reduce the nystagmus. The surgery to correct the strabismus may make the condition less noticeable.
  • Skin care and skin cancer prevention. This includes the receipt of a skin exam at least every year to detect the cancer of the skin or spots that can lead to cancer. An aggressive form of skin cancer called melanoma may appear as pink or red polka dot, or growths. Moles or growths, with or without color — especially those that are colored pink or red, and continue to change — should be examined by a skin specialist immediately.

People with Hermansky-Pudlak syndrome or Chediak-Higashi syndromes usually the need of regular care and specialized medical problems and to prevent complications.

Lifestyle and home remedies

You can help your child learn self-care practices that should continue into adulthood:

  • The use of low vision aids, such as a magnifier glass, a telescope or a magnifying glass that adheres to the crystals. Another help is a tablet connected to the whiteboard in the classroom. This is an interactive system of on-board electronics with touch screen.
  • Always Use sunscreen with a sun protection factor (SPF) of 30 or higher that protects against both UVA and UVB rays.
  • Strictly avoid high-risk or long-term exposure to the sun. Examples include being outside for long periods of time or in the middle of the day, at high altitudes, in or near water, and on sunny days with thin cloud cover.
  • Wear protective clothing, including your clothes with the color. Examples include long-sleeved, collared shirts, long pants, and socks; broad-brimmed hats; and special UV -protective clothing.
  • Protect eyes using dark, UV-blocking sunglasses. Another option is that the transition lenses called photochromic lenses, which darken in bright light.

Coping and support

Make school or job changes

If your child has albinism, begin early to work with teachers and school leaders to find ways to help your child adapt to the learning in the classroom. If it is necessary, start with educating the staff of the school about the condition and how it affects your child. Ask for the services that the school offers to assess and satisfy the needs.

Changes in the classroom that may help are:

  • A seat near the front of the classroom.
  • Large print of text books or a tablet pc.
  • A tablet pc can be synchronized with an interactive whiteboard in the front of the room, if your child wants to sit further back in the classroom.
  • Brochures contents written in the general meeting or of the screens.
  • High-contrast, printed documents, such as black text on white paper, in place of using colors of printing or paper.
  • Making the font size larger on a computer screen.
  • Avoid the bright light.
  • Allow additional time to take tests or reading material.

Many of these changes can be made in the work environment. Consider educating supervisors and co-workers in the workplace to help them understand the needs.

Deal with emotional and social problems

Help your child develop the skills to deal with the reactions of other people with albinism. For example:

  • Encourage your child to talk with you about their experiences and feelings.
  • The practice of the answers to the jokes or embarrassing questions.
  • Find a peer support group or online community through organizations such as the National Organization for Albinism and Hypopigmentation (NOAH).
  • Talk with a mental health professional who can help you and your child to develop a healthy communication and coping skills, if necessary.
Symptoms and treatment of Albinism