Albinism: Causes, Symptoms, & Treatment

Overview

Ocular albinism (OA) and oculocutaneous albinism (OCA), commonly known as albinism, refer to a class of chronic hereditary diseases. Albinism is classified as a very rare condition. A person with albinism either does not have the ability to produce melanin or produces a substantially small amount of melanin. The type and amount of melanin produced by an individual’s body determines the colour of skin, eyes, and hair of the individual. As melanin is involved in optic nerve development, people with albinism generally experience vision-related issues.

Albinism can be diagnosed in a person from the discernible difference in their skin colour, but sometimes an imperceptible difference can make a doctor’s intervention for diagnosis necessary. People with albinism are highly sensitive to sunlight and ultraviolet rays. For this reason, these people are at a high risk of contracting various skin conditions, including sunburn and skin cancer.

As albinism is a hereditary condition, there is no cure available for it. However, people with albinism can take some measures to manage the condition and lead a happy and healthy life without severely affecting their skin and vision.

Symptoms of albinism

Features of albinism can be seen as the distinctive hair, skin, and eyes of a person with this condition. The most frequently seen features of albinism include very light coloured or white hair. The hair colour is dependent on the amount of melanin available in the body of a person with albinism. 

As albinism affects the melanin production of a body, people with this condition have highly considerably skin. Some of the common traits of the albinism disease are presented here:

Hair

For most people with albinism, the hair colour varies between white and very light blond. However, some people with this condition can also have ginger or brown hair. 

The hair colour of people with this condition can change or darken depending on environmental factors, such as amount of certain minerals to which the person is exposed. 

Skin

It is already established that people with albinism have very pale skin. In addition to this, the skin of an individual with this condition may exhibit the following features.

1. Pigmented moles or non-pigmented moles (non-pigmented  moles are usually pink in colour)
2. Freckles
3. Lentigines (big spots that are similar to freckles)
4. Tendency to get sunburn easily
5. Inability to tan

Eyes

The eyes of an individual with albinism are usually pale. The colour of eyes for these people may vary as they age.

A lack of pigment in the irises of the eyes causes the eyes of a person with albinism to appear translucent. Thus, light cannot be completely blocked from entering their eyes. For this reason, their eyes can appear to be red in some types of lightings. This effect has led to a common myth related to their eyes, that is, the eyes of people with albinism are red. 

Vision

Vision-related issues are prevalent in the people with albinism. Some of the vision and eye problems are listed here:

1. Involuntary, rapid side-to-side moment of eyes
2. Head moments, including tilting and bobbing, made to see well by reducing the involuntary moment of the eyes
3. Farsightedness and/or near-sightedness
4. Inability to move both the eyes in unison or to keep the eyes focused on a point
5. Light sensitivity 
6. Anomalous retinal growth, which leads to reduction in vision
7. Anomalous curvature of the eye surface or eye lens that results in blurred vision
8. Complete blindness or legal blindness
9. Low depth perception

Causes of Albinism

The process of melanin formation is highly complex and involves the participation of various genes. The TYR gene is responsible for making tyrosinase, an enzyme situated in melanocytes. Melanocytes are the cells, which are responsible for producing melanin in a body. Melanocytes are seen in hair, skin, and eyes. A mutation in any one of these genes can lead to the termination of melanin production or a reduction in the amount of melanin produced. 

Thus, albinism can result from a mutation in any one of the aforementioned genes. Moreover, depending on the gene responsible for the occurrence of albinism, the type of albinism also varies. Different gene mutations lead to different types of albinism in humans. 

Apart from this, the occurrence of albinism depends on the genetic makeup of the parents of a person with albinism. For some types of this condition, both the parents should carry the gene mutation for albinism in order for a person to contract this disease. Sometimes, the parents of a patient with albinism carry these genes with mutation but do not themselves have the condition. If both the parents have albinism, their children can highly likely contract the condition as well. 

Risk Factors for Albinism

Some people may be at a higher risk of contracting albinism than the rest remaining population because of their genetic makeup. The people who may be at a high risk of albinism are listed here:

1. An individual whose both parents have albinism
2. A person whose parents carry the defective genes, which lead to albinism. These parents may not have albinism.
3. A person with a biological family member who has albinism

Children born to the parents with a known family history of albinism should get tested for this condition at an early age so that the condition can be managed effectively. 

Types of albinism

Since albinism is a hereditary disease, the types of albinism are determined on the basis of the affected gene and the way through which albinism is inherited. Some of the common types of albinism and their traits are presented here:

Oculocutaneous albinism

This is the most frequently occurring type of albinism. In this condition, an individual receives two copies of genes with mutation; one copy is inherited from each parent. Oculocutaneous albinism further falls under the category of autosomal recessive inheritance.

Oculocutaneous albinism leads to decreased amounts of melanin in hair, skin, and eyes, which then causes skin and vision problems. 

Ocular albinism

This type of albinism mainly affects the eyes of a person with this condition. The occurrence of ocular albinism is less than that of oculocutaneous albinism. Moreover, this condition is usually inherited by a son from his mother. Ocular albinism causes decreased pigment in the retina and iris, the coloured part of the eyes. As eye pigmentation is required for normal vision, ocular albinism obstructs the vision of the individual with this condition. 

Chediak–Higashi syndrome

People, especially children, with Chediak–Higashi syndrome experience immune deficiency, which is accompanied by a high susceptibility to infections and a tendency to easily bleed and bruise.  

Some other types of albinism include Hermansky–Pudlak syndrome and Griscelli syndrome. 

Albinism diagnosis

A physician may use one or more of the following means to determine whether a person has albinism.

1. A physical exam to analyse the pigmentation of skin and hair 
2. An in-depth eye exam
3. Comparison of the skin and hair pigmentation of a patient with that of the patient’s biological family members
4. Patient history review to determine whether symptoms, such as frequent infections and tendency to bruise easily, are seen

As only a skin pigmentation problem or a vision issue cannot indicate albinism when found as a stand-alone condition in a person, a physician has to depend on the results of multiple exams for albinism diagnosis. An ophthalmologist, a doctor who specialises in eye-related and vision conditions, should be consulted for an eye exam. If a patient presents with both skin pigmentation as well as vision-related problems, the doctor will diagnose the condition as albinism. 

Although these traditional ways are available to diagnose albinism, genetic testing remains the most accurate approach to albinism diagnosis. However, this test is generally very expensive. If a patient’s family has a history of albinism, a doctor may not advise the patient to opt for the genetic test for the diagnosis of the condition.

Treatment and management of albinism

As it is a chronic genetic disease, albinism does not have any known cure. However, measures can be taken to manage the condition.

As specified previously, albinism is a chronic hereditary condition. A chronic condition is characterised by mandatory medical attention and care that last for 1 year or more, and such a condition can cause limitations in physical activities and daily life of a patient. In some types of albinism, such as ocular albinism, neither does the eyesight deteriorate nor does the condition worsen with time. However, a person with some other types of albinism, like Chediak–Higashi syndrome and Hermansky–Pudlak syndrome, require specialised care in order to prevent complications arising from the condition and to address the person’s medical needs.

Here are some of the measures that should be taken to manage albinism in a person:

Eye care

An eye exam should be performed for a person with albinism by an ophthalmologist on a yearly basis. If required, the person should wear prescribed corrective lenses. Moreover, people with albinism can opt to wear glasses to protect their eyes. An ophthalmologist may advice a person with albinism to undergo surgery on the optical muscle in order to reduce nystagmus, which is a rhythmic and involuntary up, down, side-to-side, or circular movement of the eyes. Strabismus, another condition related to albinism, causes the eyes not to look in the same direction (a frequently seen example of strabismus is crossed eyes). An ophthalmologist may recommend surgery to resolve the issue of albinism-related strabismus. 

Skin care

A person with albinism needs to protect their skin against sun exposure. People with albinism should always wear sun protective clothing. They ought to apply sunscreen while leaving their homes in day. This sunscreen application should be repeated every two hours when a person with albinism is spending a long time outside during the day. Additionally, dermatologist consultation can be sought to know about skin care measures for the condition.

Skin cancer prevention

To ensure that an individual with albinism does not easily contract cancer, the aforementioned skin care measures must be followed. Moreover, people with albinism should get themselves checked up on a yearly basis by a dermatologist. Dermatologist consultation should be considered to ensure that a person with albinism is screened for any skin lesions, which may lead to cancer, and even skin cancer. This screening can be achived with a basic full body check-up at dermitalogist.