Dissecting Albinism

Albinism is a relatively rare genetic disorder that causes the eyes, hair, and skin to have weird colors. This genetic disorder comes as a result of the absence of the natural melanin pigmentation of the skin. Albinism can affect anyone, and it is usually associated with poor vision.

Melanin is the skin pigmentation that gives skin coloring; the absence of melanin is what is responsible for that weirdly light-colored skin. Melanin is also known to be responsible for the protection of our skin from direct contact with ultraviolet rays from the sun. With little or no melanin in albinos, they are at more risk of suffering from severe skin damages with a high risk of developing skin cancer.

Types

Oculocutaneous Albinism (OCA)

Just like generic Albinism, OCA affects the eyes, skin, and hair. These are various sub-types of OCA, and they include;

• OCA1; this occurs when there is an interruption with the functioning of the tyrosinase enzyme. OCA1 is also of two types:
• OCA1a; people with this kind of Albinism have no melanin at all. They appear white from head to toe. They lack the tiniest iota of skin coloring. This is why they look white throughout. They have pale skin, extremely white hair, and very light eyes.
• OCA1b; people with this kind of Albinism have little melanin. They have a little bit more melanin than those with OCA1a. They have light skin, light hair, and light eyes. Study shows that their skin color can improve as they age.

OCA2; OCA2 is better than 1. People with OCA2 have reduced melanin production, unlike OCA1a, where there is no melanin at all. People born with OCA2 may have yellow or blond hair instead of white as it is in people with OCA1a. OCA2 is common in Africa.

OCA3; this kind of Albinism affects people with dark skin, such that instead of white or light hair, skin, and eyes, they have reddish-brown skin, hair, and eyes. It is a defect in the TYRP1 gene. This is common among Africans as well.

OCA4; this is a defect in the SLC45A2 protein. Just like OCA2, the amount of melanin produced is reduced and quite low. The hair, eyes, and skin color of people with OCA4 are similar to the hair, eyes, and skin color of people with OCA2.

Ocular Albinism

This occurs as a result of a mutation on the chromosome. This kind of Albinism affects only the eyes. The hair, skin, and eye coloring remain normal while the retina (the black part of the eye) coloring gets affected.

Hermansky-Pudlak Syndrome

Though very rare and is not 100% an albinism case. But its symptoms are similar to OCA albinism. It comes with bleeding, lung, and bowel disorders.

Chediak-Higashi syndrome

Chediak-Higashi syndrome is a defect in the LYST gene. It is similar to OCA but does not affect the entire body. People with Chediak-Higashi syndrome have weak white blood cells such that they are more susceptible and prone to infections. Their skins are usually creamy white, and their hair brown.

Griscelli Syndrome

This condition is very rare. In the whole world, only 60 cases have been discovered in the whole world since 1978. It comes hand in hand with neurological and immune problems. Griscelli syndrome leads to death within the first decade of life.

Causes

Albinism is caused by defects or mutations in one or several genes that contribute to the production of melanin. The defects or mutation can lead to the absence of melanin or little production of melanin. These genes are passed from parents to children.

Risk Factors

Children who are born of albino parents or parents who carry the gene for Albinism are at risk of being albinos.

Symptoms

Due to the direct exposure of their skin to the sun, they experience the following;

• Freckles
• Pink colored moles
• Sunburns
• Weird spots
• Though in some people, their skin color may improve with time as they age.
• Hair color ranges from very white to very brown and sometimes yellow and reddish-brown. Exposure to minerals can help improve the color of their hair with time and make it look darker than it used to be.
• Pale eye color and eyelashes. Eye color can either be brown or blue, depending on the degree of the Albinism.
• Translucent Iris is a very common symptom, which means the iris might not be able to block bright light properly from entering the eyes.
• Uncontrollable back and forth eye movement
• Movement of the head like habitual tilting to reduce the movement of the eyes in order to aid proper vision
• The inability of the eyes to stare at one point for a long time or move in the same direction at the same time.
• Extreme long-sightedness or short-sightedness
• Extreme sensitivity to light
• Blurred vision due to curvature in the eye lens
• Poor development of the retina resulting in poor vision
• Poor connection and signal between the retina and the brain
• Other vision impairment like partial or full blindness

Complications

• Eye problems can affect learning and the ability to fix gazes on a thing. For instance, concentrating on the road while driving.
• Sunburn becomes prevalent, and skin cancer becomes imminent due to the direct exposure to ultraviolet rays from the sun.
• Bullying in school is also a complication of Albinism. Emotional and social stress would be exerted on such a child, which may lead to depression. People’s reactions towards albinos are quite negative, and discrimination due to this pigmentation disorder becomes the order of the day.

Prevention

Speaking with a medical professional or genetics expert if you have Albinism in your family history would rather help you make informed decisions about the types of Albinism that exist and your chances of having an albino child in the future.

Treatment

There is no single treatment for Albinism. This is because it is a genetic problem and can be difficult to cure. However, in order to reduce its effects, the symptoms can be managed. Symptoms management include;

• Sunglasses to protect the eyes from excess light
• Cloths that can protect the skin from direct ultraviolet rays from the sun
• Recommended eyeglasses for vision correction
• Eye surgery to correct eye movements

Albinism does not get worse with age; some types even get better with age; thus, people with Albinism can perform and engage in activities as much as other people who are not albinos.

When to See A Doctor

• If you notice any symptom of Albinism in your child, it is best to speak with your doctor about it. Then the doctor would order an eye examination and monitor your child’s pigmentation and vision changes.
• Also, visit your doctor when you notice nosebleeds or chronic skin infection on your child’s skin as this can be an indicator of Hermansky-Pudlak or Chediak-Higashi syndrome, which are severe genetic disorders that include Albinism.

Facts About Albinism

• The severity of Albinism differs among people, and surprisingly it also differs from siblings to siblings.
• Albinism is inherited.
• It is majorly caused by genetic defects and mutation.
• Albinism cannot be cured, but symptoms can be managed and treated.
• It affects the eyes, hair, and skin color.
• The major cause of Albinism is the interruption of the functioning of tyrosinase, an enzyme in the body.
• Albinism can affect 1 out of 70 people who have high albinism genes, while it is estimated that 1 out of 20,000 people are born with Albinism yearly.
• People suffering from albinism encounter various vision problems, which include impaired vision and photophobia
• Ocular Albinism affects 1 out of 60,000 males.
• Type 1 and 2 ocular albinism are the most common types of Albinism, while 3 and 4 are more common in southern African countries, Japan, and Korean countries.
• Diagnosing Albinism is quite simple as diagnosis is made by merely looking at the skin of the child and observing the pale light color of the skin

In conclusion, Albinism is a genetic defect and is of different types; it affects 1 out of 20,000 children born yearly. Identifying your own type would help you in the proper management and maintenance of the disorder. It cannot be treated, and its preventions are usually very rare and almost impossible. Albinism diagnosis is quite easy and can be done by checking out the skin color of the newborn. Complications of Albinism include vision impairment, high risks of sunburn and skin cancer, slow learning as a result of poor vision and social and emotional complications, and discrimination.