Examination of Albinism Genetic Disease Essay

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Albinism is one of the genetic conditions affecting numerous people throughout the world. It is commonly defined as a “rare, non-contagious genetically inherited disorder”, which can occur in various individuals “regardless of ethnicity or gender” (Reimer-Kirkham et al., 2019, p. 748). Diagnosing albinism typically requires a visual examination, upon which such signs as lack of color in the skin, eyelashes, and hair, or abnormalities in the eyes can be observed. To specify the type of albinism, genetic testing might be conducted (Reimer-Kirkham et al., 2019). As this condition is caused by defects in particular genes, genetic testing allows establishing which genes are damaged and how severe the occurrence of albinism is.

In the majority of albinos, the lack of melanin leads to such symptoms as the absence of pigmentation in skin and hair. As such, people with albinism usually have very brightly colored skin, translucent irises, and blond or white eyelashes and eyebrows (Liu et al., 2021). Furthermore, the limited production of melanin also results in eye disorders, for example, crossed eyes, sensitivity to light, astigmatism, or involuntary eye movements (Liu et al., 2021). In some cases, the person’s vision might become severely impaired, even leading to blindness.

As albinism is inherited genetically, it can only be acquired if an individual’s parents possess malfunctioning genes. For a person to develop this condition, both parents must have albinism or carry the relevant gene (Liu et al., 2021). As a result, this disorder cannot be fully treated, but some methods can alleviate the severity of the symptoms. Although some strategies have shown great promise in eliminating gene malfunctions, their further efficiency for the broad population is yet to be proven (Liu et al., 2021). Therefore, diagnosed individuals primarily rely on sunglasses and sunscreen to protect themselves from the ultraviolet rays and might also receive surgery to reduce involuntary eye movements.

References

Liu, S., Kuht, H. J., Moon, E. H., Maconachie, G. D. E., & Thomas, M. G. (2021). Current and emerging treatments for albinism. Survey of Ophthalmology, 66(2), 362–377. Web.

Reimer-Kirkham, S., Astle, B., Ero, I., Panchuk, K., & Dixon, D. (2019). Albinism, spiritual and cultural practices, and implications for health, healthcare, and human rights: A scoping review. Disability & Society, 34(5), 747–774. Web.

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