What Causes Albinism and What Are The Presenting Features Of It?

A genetic abnormality in which, melanin, which is a vital pigment present in the hairs and skin gets affected causing lack of or in some cases complete absence of this pigment is termed as albinism. Albinism affects those organs where melanin has its prevalence like the eyes, hair follicle, and skin. Albinism affecting the eye is the most common in United States affecting 1 in every 17,000 people. This is medically termed as oculocutaneous albinism[1].

Additionally, around 10% of population carries the gene that results in the development of albinism. Even though albinism can affect any individual its prevalence varies depending on the region. Citing an example, this condition is more common in Africa where 1 person in every 5000 individuals is affected by albinism. In some areas, it is as high as 1 in every 1000 individuals[1].

Albinism can occur both in males or females and there is no gender predominance. As of now, there is no cure for this condition but symptoms can be controlled through medications. Since albinism is a genetic condition, a study carried to study the carriers of the defective gene showed that 1 in 70 people carry the gene responsible for causing albinism. This article highlights some of the causes for albinism and the presenting features of this condition[2].

What Causes Albinism and What Are The Presenting Features Of It?

Albinism is caused as a result of mutation of the gene that controls the enzyme tyrosinase. This enzyme is responsible for synthesizing melanin from tyrosine which is an amino acid. This results in decreased production or at times complete absence of melanin from the body thereby affecting mostly the eyes and the skin[2].

Even if there is only a slight mutation and the melanin production is minimally affected, there will always be an issue with vision of the affected individual. The reason behind this is the role of melanin in the development of retina and the optic nerve pathway. The optic nerves connect the brain to the eyes. Thus any disruption in the production of melanin will lead to an underdeveloped retina and optic nerves[2].

Coming to the presenting features of albinism, as stated above, Albinism affects the areas where melanin is present which are the hair follicles, skin, and eyes. The primary presenting feature of albinism affecting the skin includes an extremely light skin tone although the difference is hardly noticeable[2].

There are cases where the production of melanin increases with age and by the time they grow old the skin becomes darker. On exposure to direct sunlight individuals with albinism might develop freckles or moles. Individuals with albinism also are at increased risk for developing skin cancer due to reduced amount of melanin[2].

People with albinism have hairs that may vary from absolutely white to brown in color. People from Africa or Asia may have yellow or red hair color. The color may however become dark with age as the production of melanin gradually increases[2].

Albinism also affects the color of the eyes. The color may be blue to begin with and then turn dark brown as the production of melanin increases with age. These individuals also are extremely light sensitive as lack of melanin prevents the iris from completely blocking sunlight[2].

The vision of an individual with albinism also gets affected to a certain degree. The affected individual tends to have nystagmus, strabismus or amblyopia. Nearsightedness or farsightedness is also quite common in people with nystagmus. There may also be vision impairment due to an underdeveloped optic nerve. Astigmatism is also something which is quite common in people with albinism[2].

The vision problems due to albinism tend to be at its worst in newborns and infants but tend to improve within six months to one year of age even though they might not be normal for most part of their lives[2].

In conclusion, albinism is a genetic disorder in which the enzyme which produces melanin is impaired due to certain genetic mutations. This results in the body parts which contain melanin to get affected. These are usually the hairs, eyes, and skin. The skin and the eyes are affected the most by albinism. This is because the optic nerves and retina remain underdeveloped resulting in various vision problems[2].

The skin tone of the affected individual also is lighter in people with albinism compared to normal individuals. The symptoms of albinism are worse in newborns and infants but tend to improve with time. The prevalence of albinism is quite rare with 1 in 17,000 people being affected in the United States but is more prevalent in continents like Africa and Asia[2].

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