Albinism can be described as a group of genetic diseases where the melanin pigment in the skin, eyes and hair is either absent or its production is extremely low. This pigment, melanin, is present in our eyes and skin. Its role in our body is to protect the skin from the harmful effects of ultraviolet radiation from the sun and to develop normal vision of the eye.
The main cause behind albinism is a kind of genetic mutation which affects the melanin production in the body. As a result, no melanin is produced in the body or very less amount of melanin is being produced. Usually, albinism symptoms are found in a person when he or she has inherited mutated genes from both the parents. If a person carries only one set of mutated gene, then there will be no signs of this disorder. Read more on facts about albinism.
What are Albinism Symptoms?
Albinism is often, broadly categorized in two major forms. One is the oculocutaneous albinism and the other one is ocular albinism. Oculocutaneous albinism symptoms are apparent on the hair color, skin color, eye color and vision of the affected person. Lack of pigment or low pigment tend to make the skin color light and pale.
In some people, the skin pigmentation remains the same throughout their life. While in others, production of melanin may start in the childhood or adolescence. Thus change in pigmentation occurs and their skin color will be no longer be milky white.
When exposed to sun, the light skin is likely to get a bit of tan and freckles of various sizes and skin moles may develop on the surface of the skin. Lack of pigmentation change the hair color to brown or white. Those who are from African or Asian descent may get slightly different hair colors that may range from yellow to red to brown.
The color of the eyes of people with albinism often change with age and it may vary from light blue to brown. Due to absence of the melanin pigment, the iris of the eyes tend to become translucent. As a result, the iris is unable to block some amount of light from entering the eyes. Sometimes, the eyes look red because of the translucence.
Vision problems like astigmatism, farsightedness and nearsightedness can be seen in all forms of albinism. Ocular albinism symptoms are observed in the eyes only. In this condition, no change is observed in the eye color or the skin color. It is only after an eye examination, the absence of the melanin pigment in the eye get detected.
Sensitivity towards light which is known as photophobia is one sign of ocular albinism. The eye movements are quite rapid in many cases and it tend to move back and forth even involuntarily which is referred to as nystagmus eyes. Another symptom is strabismus where the eyes are unable to move in unison or both the eyes cannot be pointed in the same direction.
Treatment for Albinism
As the underlying cause of albinism is a genetic disorder, there is no cure for the problem and the scope of treatment is very limited. The main aim of the treatment is to manage the symptoms to some extent. Patients are advised to avoid going out in the sun in between 10 am to 4 pm.
Annual examination of the skin and eyes is a must for them all through their lives to prevent any future complications like skin cancer. Lenses are prescribed to improve the vision. Tinted glasses are also given to protect the eyes from the sunlight. Nystagmus or involuntary movements of eyes can be reduced by surgery of the optical muscles. Strabismus can be rectified by surgical methods but it cannot cure the underlying vision problem.
As albinism symptoms bring about a lot of changes in the appearance of the affected children, they face various emotional challenges. There is a misconception among many people that albinism is a contagious disease and hence these patients are isolated in the society. This is absolutely wrong and we should cooperate with these kids so that they can cope up with the physical challenges associated with the disease in a much better manner.