Characteristics Of, And Life Living With Albinism

1581 words - 7 pages

Living with a genetic disorder can be a frustrating endeavor at the best of times; physically standing out in a society that already has misconceptions and stereotypes about how and who a person should be, doesn’t exactly help, though, it’s conditions like these that people with albinism go through every day. Albinism is a genetic disorder that results in little to no pigment, or melanin, in the hair, skin, or eyes of an individual. The lack of melanin then results in, generally, a fair complexion, light blue eyes, and pale blonde hair. Interestingly enough, however, each individual’s range of pigmentation is unique to themselves, some having hair that is able to be as dark as brown or ...view middle of the document...

Unlike Oculocutaneous albinism, the Ocular variety is not an autosomal recessive disorder (figure 1), but sex-linked instead (figure 2),
commonly passed from mother to son via the X chromosome. For the most part, the lack of melanin resulting from albinism doesn’t notably affect the lifespan of those with it, that being said, it does raise their susceptibility to skin cancer.
Along with the obvious symptoms of being light coloured, those with albinism are prone to a number of varying sight conditions, it not being uncommon for the patient to be declared legally blind, having 20/200 vision or less. For one, because of the lack of pigment, albino people have photophobia, or a sensitivity to light. This also leads to nystagmus, where the eyes are confused by the abundance of light coming through, for the iris is not able to screen out all of the light a normal iris would be able to, and, therefore, the eyes flutter rapidly about involuntarily. Lazy-eye (exotropia), crossed-eyes (esotropia), or any other form of muscle imbalance in the eyes (strabismus) are common symptoms as well (NOAH, 2014). Patients can be either near or far-sighted and typically have astigmatism, and, as if there weren’t enough possible side effects directed towards the eyes as it was, the optic nerves can often be misrouted; not to mention that albino individuals can have foveal hypoplasia as well, which is when the retina is not fully formed before birth. Overall, the visual acuity of those with albinism is lowered.
There are also some interesting mutations linked with albinism, like Hermansky-Pudlak, Chediak-Higashi, and Griscelli Syndrome. Hermansky-Pudlak Syndrome expressers are not only albino but suffer from “problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding. Affected individuals have abnormal platelets, which are blood cell fragments necessary for normal blood clotting.” (2014) Some can then develop a lung disease known as pulmonary fibrosis that causes scar tissue to form in the lungs, causing breathing problems. Once those with pulmonary fibrosis start having breathing issues, however, their life expectancy is drastically shortened, giving them only about a decade left to live. Chediak-Higashi Syndrome has similar clotting and bleeding problems as Hermansky-Pudlak Syndrome, though the affected also have immune problems like incessant infections that usually start in the early childhood, as well as nervous system complications in adulthood, like seizures and clumsiness. If left untreated in childhood, Chediak-Higashi Syndrome is usually life threatening. The most common form of Griscelli Syndrome is type 2. This form has immune system troubles almost identical to that of Chediak-Higashi Syndrome, and those with it are prone to a condition known as hemophagocytic lymphohistiocytosis (HLH) that damages the tissue and organs throughout a persons body. Type 1, on the other hand, has severe symptoms in regard to brain function:...

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