Albinos Definition and Causes
Oculocutaneous albinism involves the absence of melanin. The main subdivisions of albinism include Oculocutaneous, ocular, and albinoidism. Albinism is caused by the absence and mutation of certain proteins and enzymes, which control the production of melanin. This affects hair and skin color, and also the optic system.
I believe that albinism is a disease that is inherited through genetic abnormalities. That’s why it causes the individual to have lighter colored skin, hair, and eyes. I believe that it could possibly be detected before birth, and perhaps genetically altered.
Oculocutaneous albinism affects 1 in 17,000 individuals. It is currently an undetectable disease. Albinism is a disease that is in fact inherited through genetic abnormalities within melanin synthesis. This causes an absence of melanin, which is a black pigment in skin cells. Cellular pigmentation is dependent upon a cell’s ability to manufacture the pigment melanin. Melanin is produced within organelles called melanosomes, which are located inside cells called melanocytes. The melanocytes that originate in the neural crest provide pigment for the skin, hair, and various parts of the eyes, such as the uvea and stroma of the iris. The melanocytes that supply pigment for the retinal pigment epithelium come from neuroectoderm. Inside the melanosome, melanin is synthesized from the amino acid tyrosine through the actions of the enzyme tyrosinase.
Oculocutaneous albinos are classified as tyrosinase-positive or tyrosinase-negative. Tyrosinase-positive and -negative Oculocutaneous albinos have an autosomal recessive inheritance pattern. Oculocutaneous albinism is directly caused by incomplete melanization of the cellular melanosomes. In tyrosinase-negative Oculocutaneous albinism, the congenital inactivity of the enzyme tyrosinase prevents the cell’s use of tyrosine in the formation of the pigment melanin. In tyrosinase-positive Oculocutaneous albinism, tyrosinase activity is normal, but there is an inability of the cells to produce the synthesized melanin into the melanosomes.
The result of abnormalities in the tyrosinase enzyme creates the absence of melanin, which affects two main regions of the body. The two regions are the skin and hair, and the optic system. Without the proper amount of melanin, the hair and skin have a much lighter color; however, the production of the hair and skin is not affected. In the optic system, a lack of melanin causes abnormal development and function. The level of visual acuity varies among albino patients according to the amount of ocular pigmentation present. Oculocutaneous albinos exhibit less pigmentation than other types of albinos and tend to have lower acuity levels.
-Best visual acuity among albinos: 20/25 to 20/300
-Best visual acuity among Oculocutaneous albinos: 20/80 to 20/400
-Tyrosinase Gene Mutations Associated with Oculocutaneous Albinism…
This figure shows the coding region of the tyrosinase gene (529 amino acids). Light blue is the signal peptide, green is the copper binding regions, and orange is the transmembrane region. White circles are the location of cysteine residues and the EGF is an epidermal growth factor-like region. Missense mutations are on the top and nonsense, frameshift and splice site mutations are on the bottom.
Oculocutaneous albinism is a disease that is a result of a lack of melanin. It is inherited through a recessive gene pattern that causes abnormalities in the production of melanin. In turn, this causes light colored skin, eyes, and hair. It also negatively affects eyesight. Albinism is not detectable before birth, and it is only present in an individual if there are two recessive genes for the disease. At the current time, it is only possible to surgically alter the effects, but not completely cure the disease.
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