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 have ginger colored hair with red-brown skin, and brown or
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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…
This can consist of a physical exam, a comparison of the child’s pigmentation to that of their family members and a description of the alterations in pigmentation, as well as a detailed eye exam to detect nystagmus, strabismus, photophobia, and astigmatism. Throughout the eye exam, an ophthalmologist, a medical doctor who specializes in medical care of the eyes, utilizes a microscope with an immensely bright light, known as a slit lamp, to examine the retina and establish if there are signs of abnormal development. Additionally, electro diagnostic testing may be performed to aid in the diagnosis by evaluating the connections of the eyes to the occipital lobe, a section of the brain involved with vision. Altogether, diagnosis for albinism is chiefly comprised of a testing for skin pigmentation, as well as an in-depth exam of the
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…
This can consist of a physical exam, a comparison of the child’s pigmentation to that of their family members and a description of the alterations in pigmentation, as well as a detailed eye exam to detect nystagmus, strabismus, photophobia, and astigmatism. Throughout the eye exam, an ophthalmologist, a medical doctor who specializes in medical care of the eyes, utilizes a microscope with an immensely bright light, known as a slit lamp, to examine the retina and establish if there are signs of abnormal development. Additionally, electro diagnostic testing may be performed to aid in the diagnosis by evaluating the connections of the eyes to the occipital lobe, a section of the brain involved with vision. Altogether, diagnosis for albinism is chiefly comprised of a testing for skin pigmentation, as well as an in-depth exam of the