Albino, also known as Albinism, is a genetic condition in which there is little or no color pigment in the skin, eyes and hair. It is usually inherited from parents who are carriers. Patients with albinism, who may also experience problems in their social life due to the color difference in their skin or hair, should be very careful against sunlight and take precautions against this condition.
There is no treatment method that completely relieves or cures this rare disease. It can cause loss of self-confidence in people of all age groups, especially children. For this reason, in order to prevent social problems that patients may experience, they should first accept this disease and then receive support from their families and their environment.
Albinism, which derives from the Latin word 'albus' and means white, is a condition in which the production of the pigment melanin in the body is deficient or absent. This disease, which is an inherited condition that comes from the genes of the person, shows its symptoms with color difference in skin, hair and eyes. People who carry the disease are called albinos and there is also a risk of being a carrier. Patients who are more sensitive to daylight or sunlight than other people should take precautions against this condition and protect their skin. The symptoms of albinism are as follows:
Skin (Skin-ten): The most well-known feature is the condition where the skin, skin and hair color is lighter and whiter than normal. Skin color and hair color may be different from white or may be similar to the color of parents and siblings who do not have this disease.
Freckle: Pigmented or non-pigmented moles, usually pink in color, can be seen. People with the disease may have freckle-like spots on their skin.
Hair: People may have differences in hair color. This disease can also vary according to different regions, and people living in Africa or Asia may have yellow or brown hair. In older ages, people's hair may become darker due to the environmental factors they are exposed to.
Eye color: People's eyelashes and eyebrows often look pale. Their eye color is usually very light blue. This may vary and may take on shades of brown. A lack of pigment in the iris part of the eye can lead to a translucent vision. This can mean that the person is unable to completely block light from entering the eyes and the rays penetrate, causing visual disturbances.
Visual impairment: This is one of the most important symptoms of the disease. People with the disease experience a number of eye and vision problems. Some of these problems include
- Decreased visual acuity
- Some or complete loss of vision
- The eye is sensitive and sensitive to light (Photophobia)
- Involuntary movement of the eyes and (Nystagmus)
- Farsightedness or nearsightedness (Myopia/Hypermetropia)
- Curvature of the lens of the eye causing blurred vision (Astigmatism)
- Poor depth perception
What are the Types of Albinism?
People with the genetic condition are called albinos, while the name covering the disease in general is called albinism. Changes in the DNA region can reveal different types of this disease. The types of albinism are as follows:
Oculocutaneous Albinism (OCA): It is the most common type. Melanin deficiency in people can affect hair, skin and eyes. In order to have this type, a person must carry both copies of the mutated gene.
Ocular Albinism: It only affects the eyes. It causes color difference due to loss of pigment in the eye. People with this type usually have normal skin and hair color.
Hermansky-Pudlak Syndrome: This is a genetic condition that can cause bleeding problems, lung and intestinal problems.
Chediak-Higashi Syndrome: Since it can affect the immune system, it can lead to immune system problems and some neurological problems.
What Causes Albinism?
Melanin is produced by cells called melanocytes in the skin, hair and eyes. A mutation in any of these genes can reduce production or cause it not to be produced at all. Depending on the changes in genes, different types can be formed. Melanin prevents skin damage by absorbing harmful rays from the sun and provides tanning of the skin exposed to the sun. In case of melanin deficiency, there is a difference in the neural connections between the retina and the brain and the appearance of a disease called Foveal hypoplasia, as well as visual disturbances.
Treatment of Albinism
There is no treatment that completely cures this condition, which is a genetic disease caused by defects in DNA. However, certain measures can be taken to minimize the patient's skin, eye and vision problems.
Dermatology, ophthalmology (eye diseases and surgery) and genetics departments should work together in the treatment and follow-up process of this disease.
Patients should have systematic and regular eye checks and wear glasses or lenses prescribed by the doctor. Patients with nystagmus (strabismus) can be surgically corrected.
In addition, these patients should also have regular dermatology check-ups, during which skin examinations are performed and the condition of leysons that may cause cancer is also evaluated.
People with this condition should be taught some personal care habits starting from childhood. Some of these habits are as follows:
- Sunscreen: Patients should use sunscreen with protective properties against Ultraviolet A (UVA) and Ultraviolet B (UVB) rays. It is important that the protection level of the preferred product is SPF 30 and above.
- Avoiding Sun Exposure: Since sunlight can cause a lot of damage to the skin of these people, going out in sunny weather should be avoided.
- Protective Clothing and Precautions: When going outside, the person should wear long-sleeved t-shirts that cover their arms, not wear short pants and dress in a way that covers their legs. Also, wide hats should be preferred to protect from the sun.
- Eye Protection Measures: Sunglasses or special lenses that refract bright light and make dark colors help protect the eyes from sunlight.
Some changes in the social lives of children with the genetic condition can increase their self-confidence. Parents can talk to their children's teachers to find out about practical ways to facilitate learning in the classroom and at home. Some practices and methods that can be done in the classroom and home environment for albino children are as follows:
- Sitting the child in the front rows
- Use of books with large fonts
- Using a black pen on a white background when writing
- Increasing the size of the computer screen
- Avoid the use of bright lights when doing homework or studying
- Allowing them to use extra time for reading and writing activities
When the treatment of these patients is postponed, delayed and without the necessary support, they may face many different difficulties in their lives. Children whose vision-related problems are not treated may fail academically in the future and may have difficulty finding a job and obtaining a driver's license.
On the other hand, these individuals may have problems in their social lives and may feel different. This can lead to a lack of self-confidence. In order to prevent these situations, the support of family and friends is very important.