Oculocutaneous Albinism

Albinism is a genetic disorder characterized by a minimal production of melanin in the skin due to mutations in several genes. These variety of mutations can result in an immensely lower amount of melanin produced in the skin. For instance, there are four sorts of albinism that are determined by which mutated gene had created the disorder. They consist of oculocutaneous albinism, x-linked ocular albinism, hermansky-pudlak syndrome, and chediak-higashi syndrome. Oculocutaneous albinism (OCA) is where there is a mutation in one gene out of the four. Those with OCA type one are born primarily with white hair, blue eyes, and milky white skin, whereas those with OCA type three generally born with ginger colored hair with red-brown skin, and brown …show more content…
X-inked ocular albinism is primarily found in males, in which there is a mutation on the X chromosome causing lightly colored skin compared to that of the family. Hermansky-pudlak syndrome is where there is a mutation in one of at least eight different genes, and is relatively similar to those with OCA. Lastly, chediak-higashi syndrome is associated with a mutation in a protein coding gene, known as the LYST gene. Individuals with this rare sort of albinism mainly have brown or blonde hair, along with a silvery sheen, and creamy white to gray colored skin. Overall, albinism is an inherited disorder distinguished by an insufficient production of the skin pigment, melanin, and is caused from a mutation in a …show more content…
Because albinism is a genetic disorder, it is not possible to avert it from occurring. Although there are no cures for albinism, research is still being conducted. However, there are treatments to minimize the results that albinism has on specific body parts, primarily the eye and skin. These treatment can include optical aid and visual rehab. For instance, bifocal glasses, which have two differing optical powers, can assist children by allowing them to have better eyesight. Additionally, those with albinism may wear UV protected sunglasses to decrease eye damage. Because those with albinism do not have protection against UV radiation due to a minimal production of melanin, it is highly necessary for them to wear UV protected sun clothing and sun screen to prevent skin cancer and sun burn. Overall, those with albinism have minimal processes to prevent and treat their condition, but have methods to reduce their