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