Albinism disease
The term albinism is commonly used referring to the Okulokutaneus albinism. This is a group of congenital abnormalities where the production of melanin pigment is little or no at all.
The type and amount of melanin produced by the body will determine the color of the skin, hair, and eyes. Melanin also plays a role in the development of the optic nerve, and therefore individuals with albinism may experience impaired power see.
Signs of albinism can generally be seen from the skin, hair, and color of the individual's eyes. However, sometimes only a slight difference is apparent. People with albinism also have a higher sensitivity to the effects of sunlight, which makes them more susceptible to experiencing skin cancer.
Although there are no treatments to cure albinism, people with this disorder can take various steps to protect their skin and eyes and maximize the power of view.
Causes of albinism
Some genes provide instruction to produce one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found on the skin, hair, and eyes.
Albinism was caused by a mutation in one of these genes. Several types of albinism can occur, which depends largely on the type of gene mutation that caused it. Such mutations can cause unproductive of melanin altogether or decrease in the significant production of melanin.
The type of albinism is classified based on how the condition is lowered as well as the genes involved. Some of the types that can happen are:
- Albinism of Okulokutaneus, which is the most frequent type, can occur in people who have two genes that are subjected to mutations, one from each parent (an autosomal decrease in reclusive). This condition is the result of a mutation in one of seven genes, named OCA1 to OCA7.
Gen OCA causes decreased pigmentation of the skin, hair, and eyes, as well as impaired power, see. The number of pigments varies based on the type of gene mutation, as well as the skin, hair, and eye colors.
- The ocular albinism, which is limited to the eyes and causes a power disorder to see. The most commonly observed type is type 1, which is derived from the occurrence of gene mutation in chromosome X.
The ocular albinism associated with the X-chromosome can be derived from a mother who has one X chromosome that had a mutation to her son. Ocular albinism occurs almost always in males and is less common than the OCA.
- Albinism related to hereditary syndromes, such as the Hermansky-Pudlak syndrome which includes one type of OCA. This condition is also characterized by the disturbance of bleeding and bruising and diseases of the lungs and gastrointestinal tract.
One of the other conditions is the Chediak-Higashi syndrome, which includes one type of OCA as well as endurance disorders with recurrent infections, neurological abnormalities, and other health conditions.
Symptoms of Albinism
Signs and symptoms of albinism can involve skin, hair, and eye color, as well as the power of view.
One of the most recognizable signs of albinism is its white hair color and skin that is much brighter than its siblings. Skin coloring (pigmentation) and hair color can vary from white to brown, and can also sometimes be similar to parents or siblings who do not experience albinism.
With exposure to sunlight, some people with this condition may experience:
- Facial spots
- Moles, with or without pigments (moles with no pigment are generally pink)
- Large facial spots (lentigines)
- Sun-Flammable skin
In some people with albinism, pigmentation of the skin has never changed. In others, melanin production can start or increase in childhood or adolescence, resulting in slight changes in pigmentation.
Hair color can vary from very white to brown. People with a background of African or Asian races who experience albinism can have yellow, reddish, or brown hair colors.
Hair color may also become increasingly darker when entering a young adult age, or experiencing discoloration due to exposure to minerals that are normally found in water and the environment. Also, hair color can appear to darken as you age.
The color of the eyelashes and eyebrows are often pale. Eye color can vary from very young blue to brown and can change as you age.
The lack of pigment on the colored part of the eye (Iris) makes the iris appear translucent. This means that the iris cannot inhibit the light from entering the eye completely. As a result, the eyes with very young colors can appear as red at certain lighting.
See power interruption is one of the key signs of all types of albinism. Disorders and problems with the eye may include:
- Eye movements in a certain direction and return the Fast and involuntary (Nystagmus)
- Movement of the head, such as logging or tilting the head, to try to reduce the movement of involuntary eyes and see more clearly
- The difficulty of both eyes to point to one spot or move simultaneously (strabismus)
- Very extreme short-sightedness or long-sightedness
- Sensitivity to light (photophobia)
- Abnormal Kurvatura on the front layer of the eye or eye lens (astigmatism), which can lead to blurred vision
- Abnormal development of the retina causing decreased power see
- Nerve signals from the retina to the brain that does not follow the supposed neural pathways
- Lack of good depth perception
- Legal blindness, or completely blind blindness
Diagnosis of Albinism
Diagnosis of albinism can be determined based on:
- Direct physical examination that includes skin and hair pigmentation examination
- Thorough eye exams
- Comparing patient skin pigmentation with other family members
- Conducting studies of the patient's health history, including a history of bleeding that is difficult to stop, excessive bruising in the body, or a history of repeated infections
Examination of the eye can also be done to evaluate the presence of Nystagmus, strabismus, and Photophobia. The doctor may also use the tools to evaluate the condition of the retina and determine the presence of abnormal signs of development.
Handling albinism
The handling of albinism is aimed at obtaining good eye care and skin monitoring for signs of abnormality. The handling team involved may include primary service physicians, ophthalmologists, dermatologists, and genetic experts.
Handling in albinism generally includes:
- Eyecare. This includes regular eye examinations and the use of glasses with corrective lenses.
Although operative action is rarely part of the treatment of eye abnormalities due to albinism, the ophthalmologist may recommend surgery for eye muscles when assessed is needed.
- Skincare and skin cancer prevention. This includes periodic screening of the skin condition to evaluate any lesions that can lead to skin cancer.
One aggressive type of skin cancer known as melanoma can appear as a pinkish skin lesion.
People with Hermansky-Pudlak syndrome or Chediak-Higashi syndrome can require routine special treatment to handle medical needs and prevent complications.
Prevention of Albinism
When one family member experiences albinism, a genetic counselor can help the family to further understand the type of albinism and the possibility to have offspring with albinism in the future. Genetic counselors can also explain more about the examination.