For my research project I have chosen the genetic disease albinism. There are a few reasons why I chose albinism as my topic. First and foremost, in first grade a very close friend of mine was an albino, and although I have not seen her since, I am still curious as to what the causes of albinism are. Back then, my mother explained it to me by saying, “that’s just the way his skin is” which is a fine way to explain it to a five year old, but now I find myself wanting to know more. Another reason I am curious about albinism actually extends from my first reason. I often wondered if there was any chance that my kids could possibly be born with it. I know now that it sounds a little bit absurd but I would sometimes worry that I wouldn’t be able to take my children to the beach. I also used to wonder whether or not my friend could see the same way I could, since her eyes looked so different from mine. As a result of all of this, I could not turn down the opportunity to research a disease that has held my curiosity for such a long time.
Albinism is a disease, which is as old as the medical literature itself. The first ever reported case of albinism that came up was in the year 1908. Although the claims of earlier historians that Aulus Gellius and Plinius Secundus the Elder were the first individuals to have observed the condition, its discovery as a disease was credited to Archibald Garrod, an English physician who pioneered the field of inborn errors of metabolism.. He discovered the disease in 1908. He observed patients, particularly those with symptoms like hypersensitivity to light, eye misalignment along with abnormal decussation. As it became clearer that he had pioneered a new field of medicine, Garrod was increasingly honored in England and abroad. In 1935 he was awarded the Gold Medal of the Royal Society of Medicine.
The word "albinism" also known as the Hermansky-Pudlak syndrome, refers to a person with the hereditary absence of pigmentation in the skin, eyes, and hair. They have inherited genes that do not make the usual amounts of a pigment called melanin, which is pigment present in the hair, skin, and eyes. Melanin’s role in protecting us from ultraviolet light is helps in the development of the retina and brain and other interconnections. Most children with albinism are born to parents who have normal hair and eye color. Albinism is an autosomal recessive disorder. All the children of two homozygous affected parents are also affected. This means that two parents who have albinism, and who possess two recessive alleles each for albinism will produce affected children 100% of the time. Being a somewhat rare disorder, albinos are often the children of unaffected parents. Parents who are both heterozygotes (both carriers of the disease but not having it themselves) have a 75% chance of producing a normal, non-affected child. Because albinism is not carried on the sex chromosomes, it is expressed equally in both males and females, and either parent can transmit the disorder. Albinism also affects people of all races equally.
Similar to the skin, albino eyes also lack color; the irises usually appear pinkish. It is a common belief that people with albinism must have red eyes, but in fact the color of the iris varies from a dull gray to blue to brown. Under certain lighting conditions, little pigment is visible. This reddish reflection comes from the retina, which is the surface lining the inside of the eye. People with albinism often have eye problems. First of all, they suffer from severe sensitivity to bright lights. Cases of extreme nearsightedness or farsightedness that cannot be completely corrected with eyeglasses are also common. Due to their bad sight, albinos are often restrained from certain activities such as driving and playing sports.
Oculocutaneous albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eye.