How Is Albinism Diagnosed? How Is Albinism Treated? To care for the eyes, people with albinism: need to see an ophthalmologist eye doctor regularly can wear special glasses or contact lenses to protect their eyes from the sun can get treatment for nystagmus and other eye problems People with albinism have an increased risk of developing skin cancer.
To protect their skin, they can: Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours. Try to stay in the shade as much as possible. Cover up with clothing with SPF protection. Wear a hat. Check their skin for changes or suspicious marks.
See their dermatologist every 6—12 months for a skin check. Avoid tanning beds. DNA tests can determine the precise type of albinism. Research on albinism genes is ongoing. Some are further divided into subtypes. This enzyme helps the body to change the amino acid, tyrosine, into pigment. There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin.
People with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown. People with OCA3 can have substantial pigment.
They have reported mutations on three additional causative genes. As gene testing becomes available, and more people with these types of albinism are identified, the complete range of physical manifestations will be recognized, and may overlap with other known types of OCA.
Currently, these types of albinism are considered to be uncommon. Researchers have also identified several other genes that result in albinism with other features.
In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding or if a genetic test for a type of OCA produces inconclusive results. Autosomes are the 22 pairs of chromosomes that contain genes for our general body characteristics, compared to the one pair of sex chromosomes.
We normally have two copies of these chromosomes and the many genes on them — one inherited from our father, the other inherited from our mother. That means that most types of albinism result from inheriting an albinism trait from both the mother and the father who often have typical pigmentation.
In this case, the mother and father are considered to be carriers of the albinism trait because they each carry a recessive gene for the condition but do not manifest the condition themselves. When both parents carry the albinism gene and neither parent has albinism there is a one in four chance at each pregnancy that the baby will be born with albinism. Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections.
These signs and symptoms may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which are rare but serious disorders that include albinism. To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition.
Several genes provide instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin, hair and eyes.
Albinism is caused by a mutation in one of these genes. Different types of albinism can occur, based mainly on which gene mutation caused the disorder. The mutation may result in no melanin at all or a significantly reduced amount of melanin.
Types of albinism are classified based on how they're inherited and on the gene that is affected. People with albinism have skin that is very sensitive to light and sun exposure. Sunburn is one of the most serious complications associated with albinism because it can increase the risk of developing skin cancer and sun damage-related thickening of the skin. Some people with albinism may experience discrimination. The reactions of other people to those with albinism can often have a negative impact on people with the condition.
People with albinism may experience bullying, teasing or probing questions about their appearance, eyewear or visual aid devices. They usually look very different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders. These experiences may contribute to social isolation, poor self-esteem and stress. Pheomelanin actually causes the creation of more free radicals.
Therefore, the development of skin cancer in individuals with albinism is due to both reduced protection against sun damage and the increased production of free radicals [ 4 ]. Different types of albinism come with different risks of developing skin damage and skin cancers. For example, skin cancers are a leading cause of death in certain ethnic groups, such as African albinos.
Skin cancers can be prevented by protecting the skin with sunscreen and clothing and by early skin checks [ 5 ]. Skin cancers that are detected at a later stage are more difficult to treat, which is why prevention of sun damage and skin checks are so important.
One way that doctors help kids with albinism is by encouraging protection of the skin from the sun. It is crucial that doctors closely monitor children with albinism so that they can detect skin cancers early if they occur [ 1 ]. Doctors can also help kids with albinism by treating eye abnormalities.
Kids with albinism should have an eye examination by the age of 4 months. Within their first 2 years, eye exams are recommended every 3—4 months, which is reduced to every 6 months between ages 2 and 4 and to once a year by the age of 5.
The frequency is further reduced to 2—3 years by the age of 18—20 [ 2 ]. Eyesight problems are treated with glasses or contact lenses to improve vision [ 6 ]. Bifocals or hand-held magnifiers can also be useful. Individuals with eye misalignments may benefit from eye muscle surgery, which helps to align the eyes properly.
Surgery may have to be performed multiple times to completely fix the eye alignment. There is no real cure for albinism, however one study investigated the use of a drug that helps to break down tyrosine in children with OCA type 1B. Children treated with the drug showed an increase in pigmentation of the hair and skin; however, vision problems were not significantly improved [ 7 ] and there were a number of unpleasant side effects.
So, this drug may not work for many people, because successful treatment of vision problems is important for patients with albinism.
0コメント