Introduction
Albinism is a rare and complex genetic disorder affecting the body’s melanin production. A lack of pigmentation in the skin, hair, and eyes typically characterizes it. Due to significant visible manifestations, albinism has many social implications, including the discrimination and stigma faced by those living with it. Apart from that, it can lead to various medical issues, including vision, hearing, and skin sensitivity to sunlight. Treatment options for albinism vary, including protective clothing and sunscreen, vision therapy, and surgeries. In recent years, various research has been conducted to understand the genetic basis of albinism better and to develop new treatments and therapies (Liu et al. 352). Hence, this essay will examine specific biological causes and symptoms of albinism, available treatments and therapies, and the latest research findings.
Genetics of Albinism
Albinism is an inherited condition that is caused by a mutation or deletion of the genes responsible for melanin synthesis. As a consequence of these genetic alternations, an affected individual lacks pigment in their skin, hair, and eyes (Oetting and Adams 1). Namely, it is caused by gene mutations that code for proteins involved in synthesizing the pigment melanin. Among the most frequent clinical manifestations of albinism belongs oculocutaneous albinism (OCA), which is caused by mutations in one of a group of genes known as the OCA genes. These genes code for proteins in synthesizing the pigment melanin, which is responsible for skin coloration, hair, and eyes (Ray et al. 352). Depending on the gene involved, OCA can be inherited in an autosomal dominant, recessive, or X-linked manner (Ray et al. 353). In autosomal recessive OCA, two copies of the mutated gene must be present for the condition to be expressed (Ray et al. 353). If only one of the parents is confirmed to have the mutated gene, their child will not necessarily have the condition.
People with the same mutated genes have a higher chance of contracting albinism to the child. When a female carries the mutated gene, there is a 50% chance that her sons will be born with OCA and a 50% chance that her daughters will be carriers of the condition (Kerr and Kromberg 240). Regardless of which type of OCA is present, the condition is caused by mutations in genes that code for proteins in synthesizing the pigment melanin. In some cases, these mutations can be inherited either from one or from both parents, while in other cases, they can occur spontaneously.
Inheritance of Albinism
Albinism is an inherent disorder that is inbred in an autosomal recessive pattern. This means that for a person to have albinism, they must inherit two mutated gene’s copies, one from each parent. If a person has only one mutated gene’s copy, they are said to be carriers and will not have any physical characteristics associated with albinism. When both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that the child will have albinism (Kerr and Kromberg 240). It is also possible for a person to have albinism even if neither of their parents is a carrier. This is because the mutated gene can spontaneously mutate in the egg or sperm that forms the embryo. Albinism is caused by mutations in the gene that produces an enzyme called tyrosinase. Tyrosinase produces melanin, the pigment that gives skin, hair, and eyes their color.
Mutations in this gene produce a non-functioning or reduced amount of tyrosinase, resulting in a lack of pigment, mostly in the skin, hair, and eyes. Albinism is not contagious or progressive and does not affect a person’s life expectancy. The disorder is present at birth and is lifelong, and it is also not linked to any other medical conditions. While there is no cure for albinism, it can be managed with proper sun protection and vision care. Albinism is a rare disorder, affecting only 1 in 17,000 people in the United States (Altınbay 150). However, it is much more frequent in certain ethnic groups, such as people of African or Asian descent. Hence, it is crucial to be aware of the inheritance pattern of albinism and the higher incidence of the disorder in certain ethnic groups.
Symptoms of Albinism
Albinism causes vision problems due to a lack of melanin or an insufficient amount of melanin in the eyes. As a result, albinism can cause vision problems such as reduced visual acuity, photophobia, and nystagmus (OECD 57). These vision problems can range from mild to severe and may be corrected with glasses or contact lenses. In some cases, vision problems associated with albinism may not be able to be corrected and may lead to permanent vision loss (Altınbay 154). The iris cannot contract and relax appropriately due to the lack of pigment, leading to increased sensitivity to light (Liu l5304). This problem is because of the lack of pigment in the eye, which affects the structure of the eye and how light enters and is processed by the eye (Altınbay 154). It can lead to decreased focus and reduced ability to distinguish between colors.
Moreover, albinism causes skin discolorations caused by reduced or absent melanin production. The most common skin discolorations associated with albinism are pinkish, yellowish, and greyish. People with albinism may also have white hair, which may be brittle and fragile (Nakkazi 553). Additionally, they may be susceptible to sunlight and be at risk for sunburn and skin cancer. People with albinism may have lighter-colored eyes than the general population. In some cases, the eyes may appear to be pink, blue, or even red. This is because the lack of melanin in the iris causes the underlying blood vessels to be visible. Hence, skin discolorations are one of the significantly visible symptoms of albinism.
Albinism can also cause hearing problems because it can affect the development of the middle ear and the bones that transmit sound to the inner ear. It can also affect the development of the auditory nerve carrying sound signals to the brain from the inner ear (Brody 93). Hearing loss can sometimes be helped with hearing aids or other devices. The inner ear comprises the semicircular canals and the vestibular system. The semicircular canals are responsible for maintaining balance and the vestibular system helps with head movements. The hair cells in the inner ear are sensitive to melanin because they contain tiny structures called melanosomes which help to absorb and transmit sound waves. When there is a decrease in melanin production, the melanosomes cannot absorb the sound waves effectively, resulting in hearing loss.
Furthermore, sunburn is another sign of albinism which results from ultraviolet rays (UV). People with albinism have very little protection from the sun’s ultraviolet rays, and as a result, they are more sensitive to the sun than people with normal pigmentation. This sensitivity can cause several health problems, including sunburns, skin cancer, and vision problems. The primary reason why people with albinism are so sensitive to the sun is that they lack the protective pigment melanin. Melanin absorbs UV light and helps protect skin from sun damage (Hartshorne and Manga 122). Without it, UV radiation can penetrate the skin more quickly, leading to sunburns, skin cancer, and other problems. Finally, people with albinism are more likely to display a deficiency of vitamin D, which puts them at an elevated risk for sunburn and skin cancer. When exposed to UV light, vitamin D is produced in the skin, and people with albinism may have difficulty producing enough vitamin D to protect against sun damage.
Treatment of Albinism
Surgery is one of the options available to treat individuals with albinism, and it can be used to correct various issues associated with the condition. One of the primary goals of surgery for albinism is to improve vision. This is often achieved through a procedure known as iris implantation. In this procedure, an artificial iris is implanted into the eye to enhance the patient’s vision, and it can also help to reduce the risk of photophobia (Liu et al. 375). Surgery can also be used to correct the cosmetic appearance of albinism. This is often done through skin grafting, where healthy skin is taken from another body area and transplanted onto the affected area. This can help to improve skin tone, reduce the appearance of pale spots, and create a more natural look.
Cosmetics can also be used to help people with albinism to achieve a more balanced skin tone. The first step in using cosmetics to treat albinism is identifying the right shade of foundation. Most people with albinism have very fair skin, so it is essential to choose a slightly darker foundation than the person’s natural skin tone. This allows the foundation to blend in more naturally and to provide even coverage. After the foundation has been applied, the next step is to use a concealer. Concealers are available in shades slightly darker than the foundation, specifically designed to cover up darker patches of skin. Using a concealer can help to reduce the appearance of any dark spots or patches on the skin, resulting in a more even complexion. The final step is to use a bronzer. Bronzers are available in various shades, from light to dark. Thus, applying a slightly darker bronzer than the foundation makes it possible to create a subtle sun-kissed effect that helps to even out the complexion.
Additionally, sun protection is an essential part of treating albinism. Sun protection helps to prevent photodermatitis and skin cancer, which are common in people with albinism. Sun protection also helps to reduce the risk of vision complications, such as photophobia and cataracts, which can be caused by prolonged exposure to ultraviolet (UV) radiation. The best way to protect people with albinism from it is to limit their exposure. It can be done in many ways, for instance, by wearing a wide-brimmed hat, long-sleeve shirts, and long pants. It is also essential to use SPF sunscreen and to apply it generously to all exposed skin. Sunscreen has to be reapplied every two or more hours if the person is sweating or swimming. It is also essential to avoid being outside when UV radiation is at its peak during the middle of the day. People with albinism should stay out of direct sunlight, and if they must be outside, they should remain in the shade most of the time.
Besides, special glasses or contact lenses can help treat albinism and some of its associated vision problems. Glasses or contact lenses can block out the glare caused by the sun, which can be incredibly bothersome to people with albinism. These lenses can also help to reduce the amount of light that enters the eyes, which can help to reduce eye strain. Special glasses and contact lenses protect the eyes from UV light, which can be damaging to people with albinism. By blocking out the UV light, these lenses aid in reducing the risk of developing certain eye diseases, such as cataracts, which can be more common for people with albinism. In summary, special glasses and contact lenses significantly improve the quality of life for those with albinism.
Latest Studies Concerning Albinism
Albinism is associated with many eye conditions that raise concerns about new treatments. The latest albinism research, titled “Stem cell model of albinism to study related eye conditions,” suggests that albinism is caused by a genetic mutation in a gene known as the CACNA1F gene (NIH). Albinism is associated with a lack of pigmentation in the skin and eyes and other eye conditions such as nystagmus, photophobia, and reduced visual acuity. To further understand the effects of this gene mutation, the researchers conducted experiments using human pluripotent stem cells (hPSC) derived from albinism patients (NIH). The stem cells were then differentiated into three-dimensional retinal tissue, which could provide a model to study the effects of albinism in the eye.
The experiment results showed that the retinal tissue from the albinism patients did not produce melanin, confirming that the mutation of the CACNA1F gene causes albinism (NIH). Additionally, the retinal tissue from the albinism patients had structural abnormalities in other eye conditions associated with albinism. This further confirmed that albinism is associated with these other eye conditions. The experiment results suggest that hPSCs could be used to model albinism and related eye conditions. This could lead to new treatments for albinism and related eye conditions, as well as a better understanding of the underlying causes of albinism.
OCA is another eye condition that draws scholarly attention. In its context, “In Vitro Disease Modeling” research focused on developing a model to further the condition understanding (George et al. 173). OCA is an inherited genetic disorder characterized by skin, hair, and eyes lacking pigment. While OCA has been studied for many years, there has been limited understanding of the pathology of the disease and the effects of treatments. George and his team developed a mouse model to study OCA. The researchers used gene-editing techniques to create mice with mutations in the TYR and OCA2 genes associated with OCA. These mice displayed reduced pigmentation in the skin, hair, and eyes and various eye defects. The researchers then conducted several experiments to study the effects of treatments on the OCA mice (George et al. 173). They tested various eye drops and topical medications to see if they could improve the symptoms of OCA. They also investigated the effects of dietary supplements and laser treatments.
The experiments showed that some treatments might effectively improve the signs and symptoms of OCA. The researchers found that eye drops containing melatonin and topical medications containing vitamin D improved the pigmentation of the skin, hair, and eyes. They also found that dietary supplementation with vitamin A and lutein, as well as laser treatments, improved the eye defects in the OCA mice. Overall, the research provides new insights into the pathology of OCA and suggests potential treatments for the condition. The results suggest that various eye drops, topical medications, dietary supplements, and laser treatments may effectively improve the signs and symptoms of OCA.
Social Implications of Albinism
Albinism results in social stigma, which causes loneliness and stress among its victims. People with albinism are often treated differently from those without the condition and may be excluded from social activities or even, in some cases, be subject to discrimination and prejudice. This stigma is often based on the misconception that albinism is contagious or a sign of bad luck. People with albinism can also be victims of physical and verbal abuse, including bullying. Albinism can be a complex condition to live with and causes significant stress and anxiety for those affected (OECD 57). People with albinism need support from family, friends, and medical professionals to help them cope with the physical and emotional effects of the condition. Additionally, it is essential to spread awareness and understanding of albinism to reduce the social stigma associated with it.
Social isolation is another common experience among people with albinism. People with albinism often experience a lack of acceptance and belonging in their communities due to physical differences. These disparities can lead to social exclusion, teasing, and bullying. Furthermore, the lack of pigment in the skin and eyes can result in vision problems such as decreased vision, nystagmus, and photophobia. This effect can further lead to social isolation as people with albinism may feel unable to participate in activities or feel uncomfortable in social situations. Individuals with albinism may be discriminated against due to their physical appearance (Clarke and Beale 263). This can lead to further social isolation as people with albinism may feel uncomfortable or unwelcome in specific social settings. People with albinism often face low self-esteem, affecting their social ability and leading to social isolation. Therefore, creating and maintaining an environment of acceptance and understanding is essential to help people with albinism feel included and valued in their communities.
Additionally, bullying and teasing at school can begin with general prejudices and misconceptions about albinism. People with albinism may be seen as different, and students can make fun of their physical features or make negative comments about their appearance. Students may make jokes or comments about the medical aspects of albinism, such as vision problems, which can further lead to teasing and bullying. People with albinism may also experience bullying because of their physical differences, as other students may feel uncomfortable about their skin or eye color (Clarke and Beale 261). Thus, bullying and teasing of people with albinism at school can arise from various factors, from general prejudices and misconceptions to a lack of understanding about the condition. Schools and teachers need to recognize the potential for bullying and take steps to prevent it.
Albinism also comes with invisibility in mainstream media among their victims. It is often portrayed as a mysterious, magical condition, and albino characters are often described as having the power of invisibility in the mainstream media. This has created a false and negative impression of albinism in the public consciousness, suggesting that people with albinism are supernatural, exotic, and even dangerous. The invisibility of people with albinism in media has contributed to their invisibility in real life, where they often face discrimination and prejudice. In order to counter this negative portrayal of albinism in mainstream media, albino characters should be portrayed in a more positive, realistic, and accurate light. This could reduce the discrimination and stigma that people with albinism often face and help to create a more inclusive society.
Conclusion
Albinism is a condition that affects both the biological and social aspects of life. On the biological side, albinism is an inherited genetic disorder caused by a lack of melanin in the body. It can cause various physical symptoms, ranging from vision and skin-related issues. On the social side, albinism is often stigmatized, leading to discrimination and prejudice against people with albinism. This can result in a lack of social integration and limited job opportunities. It is important to remember that albinism is a condition that does not define a person, and people with albinism should be treated with respect and understanding. Thus, it is vital to be aware of albinism’s medical aspects and be sensitive to the social implications of the condition. With increased awareness and understanding, people with albinism can live full and happy lives.
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