Oculocutaneous And Ocular Albinism
Albinism is a genetically heterogeneous congenital disorder, which causes decreased or absent pigmentation in the hair, skin, and eyes (O’Neill “Albinism, Oculotaneous”). There are two different types, which include: oculocutaneous and ocular albinism. Oculocutaneous albinism affects the hair, skin, and eyes whereas ocular albinism only affects the eyes.
In regards to discovery, albinism was a known disease for a very long time, but it was first recorded and researched by Sir Archibald Edward Garrod in the early 1900’s (Knox). By 1908, Garrd had developed a presentation/lecture from the data that he collected on the non-visual aspects of albinism, such as the affects that albinism has on the immune system and metabolism. At that time, people could tell if someone had albinism simply by looking at the pigmentation in their hair, skin and eyes, but Garrod was more so focused on the internal effects of albinism on humans. In this presentation/lecture, Garrod presented his concept of “inborn errors of metabolism,” in which he used several diseases (including albinism) to illustrate. This lecture is now considered to be a landmark in not only biochemistry, but genetics and medicine as well. It is considered to be such a …show more content…
This disease’s mode of inheritance is X-Linked, which means that the gene causing the trait or disorder is located on the X chromosome. Overall, it is caused by a mutation in the GPR143 gene on chromosome Xp22.2. In comparison to oculocutaneous albinism, it is much less common with the prevalence being 1 in 60,000 people, which was determined in a study conducted from 1960 until 1989. Some clinical features include for ocular albinism include: Nystagmus, photophobia, impaired vision, albino pupillary reflex, prominent choroidal vessels, mosaic fundal pigmentation in carrier females, and normal pigmention in the hair and
In regards to discovery, albinism was a known disease for a very long time, but it was first recorded and researched by Sir Archibald Edward Garrod in the early 1900’s (Knox). By 1908, Garrd had developed a presentation/lecture from the data that he collected on the non-visual aspects of albinism, such as the affects that albinism has on the immune system and metabolism. At that time, people could tell if someone had albinism simply by looking at the pigmentation in their hair, skin and eyes, but Garrod was more so focused on the internal effects of albinism on humans. In this presentation/lecture, Garrod presented his concept of “inborn errors of metabolism,” in which he used several diseases (including albinism) to illustrate. This lecture is now considered to be a landmark in not only biochemistry, but genetics and medicine as well. It is considered to be such a …show more content…
This disease’s mode of inheritance is X-Linked, which means that the gene causing the trait or disorder is located on the X chromosome. Overall, it is caused by a mutation in the GPR143 gene on chromosome Xp22.2. In comparison to oculocutaneous albinism, it is much less common with the prevalence being 1 in 60,000 people, which was determined in a study conducted from 1960 until 1989. Some clinical features include for ocular albinism include: Nystagmus, photophobia, impaired vision, albino pupillary reflex, prominent choroidal vessels, mosaic fundal pigmentation in carrier females, and normal pigmention in the hair and