Oculocutaneous Albinism: A Genetic Disorder

Patients OCA1A have an absence of melanin, resulting in white hair, including eyelashes and eyebrows. The skin is also white unable to tan. OCA1A Patients develop Their irises are translucent and born light pink or red, but range in color from light blue to almost pink. These symptoms do not change over time, and don’t vary upon race. They have a visual acuity of 20/200 or less (20/20 being normal vision), and have intense photophobia. Patients with OCA1B are normally born with the same symptoms as those with OCA1A, but the hair and skin often develop some pigment over time. Their irises may change from blue to green/brown later in life. They often are born with visual acuity 20/100. There is also a type of OCA1b, known as temperature sensitive albinism, where there is white hair in the warmer areas of the body (such as scalp) and progressively darker hair in the cooler areas of the

Oculocutaneous albinism is an autosomal recessive disorder, whereas ocular albinism is a sex-linked or autosomal recessive disease. Oculocutaneous results from mutations in several genes, including TYR, OCA2,

There are numerous signs and symptoms when regarding albinism. For example, symptoms of albinism include skin color than can range from white to brown. For some, skin pigmentation does not change, whereas for others, melanin production could increase during their early years, causing minimal changes in pigmentation. Some may develop freckles, moles that could be pink, lentigines, and the ability to tan if they are exposed to the sun. Hair color can consist of yellow, reddish, or brown, and may darken by early adulthood, and eye color may be light blue to brown and may change with age.

Albinism is a disorder where the gene for melanin pigment is decreased, which causes your skin or hair to become a lighter shade. This disorder comes from all different backgrounds. There are two different types of albinism; OCA and OA. From the OCA category, there are seven different subcategories; OCA 1, OCA 2, OCA 3, OCA 4, OCA 5, OCA 6, and OCA 7. Albinism is a recessive inheritance, meaning that there must be two mutated genes from each parent. The symptoms of being an albino are having poor vision, or the skin or hair is abnormally pale on the person. Vision may be extremely nearsighted or extremely farsighted. Albinos may be very sensitive to light as well.

Albinism, also known as Achromasia, is a genetic disease that affects the integumentary system and the visual system. Albinism makes the body unable to distribute or produce melanin in the skin, eyes, nails, and/or hair. Albinism occurs in all racial and ethnic groups around the world. Albinism affects nearly 18,000 to 20,000 in the United States alone, and can is as high as 1 in 3,000 in other parts of the world. [1] A common misconception is that all forms of albinism affect the skin, but there a multiple forms of Albinism that only affect certain parts of the body, like Ocular Albinism, which only affects the eyes; and there are types of albinism that affects the whole body, like OCa1.[1] Another misconception about Albinism is that the infected have red eyes, but most people with Albinism have blue eyes; because of the lack of pigment in the Iris the blood vessels can be seen which may give the eyes a red or violet color in certain lighting. [4]Albinism is a recessive genetic disease that affects the enzyme tyrosine-3-monooxygenase, which is responsible for producing melanin from amino acid. People who suffer from Albinism usually

A genetic disorder is an illness that is caused by one or multiple abnormalities in the genome. Genetic disorders are not unusual, however when a genetic disorder occurs it usually happens in one and every thousand or million persons. Sometimes genetic disorders can or cannot be heritable, meaning passed down from the parents to their offspring. Often times the parents are unaware that they can carry over a genetic disorder to their offspring. When genetic disorders that does not occur from the parent, it can mean that the cause for the genetic disorder is caused by a new mutation or changes in the DNA. Most cellular structures consist of proteins that carry out to work and to perform life functions. When a gene is disrupted in a way that the proteins no longer carry out a normal function, a disorder can occur.

Eye colour is a polygenic trait, meaning that the phenotype of the trait is one which is influenced by more than one gene. There are two genes which control the eye colours we are born with, which are obtained from our parents. The first gene, which is found in chromosome 15, is called EYCL3 and is responsible for brown or blue eye coloration. The second, which is found on chromosome 19, is responsible for green or blue eye colouring and is called EYCL1. It is currently unknown if other genes may determine the pigmentation of the iris in regard to patterns and placement, for example the difference between an eye of a single colour block, such as brown, instead of rays of different colours like hazel. (composed partially of green and brown)

There are various types of albinism that affect humans and animals alike. Oculocutaneous albinism (OCA) primarily affects the skin, hair, and eyes. There are several subtypes of OCA including OCA1, OCA2,OCA3, and OCA4.  OCA1 is a result of a defect in the tyrosinase enzyme, which is the enzyme responsible for melanin production. Individuals with OCA1a have a complete absence of melanin and tend to have white hair, very pale skin, and light eyes.  Another subtype of OCA1 is OCA1b. Those with OCA1b produce melanin in minimal amounts but their coloring may increase with age. OCA2 is less severe than OCA1. Mutations in the OCA2 gene cause a disruption in the normal production of melanin; therefore, causing vision problems and reductions in hair,

Genetic disorders is a genetic problem caused by abnormalities carried in the genetic materials in the cell. Most genetic disorders are rare and affect one person in a thousand. Genetic abnormalities can lead to cancer along with other health conditions. Genetic disorders can be inherited from a parent to their offspring but can also develop in a person’s lifetime. A genetic disorder can only be inherited if the mutation carried by the parent is in the sex cells. There are four main types of ways people inherit a disorder. These are Autosomal dominant where the disorder is apparent in every generation and can cause the condition in everyone who has the alteration. This occurs because the

Albinism, a skin disorder that causes an enzyme called melanin to not work well or not at all. Albinism causes the patent to have pink eyes, white hair, and pale skin. The life for albino people is hard keeping sunscreen on at all times and skin tumors and cancer is more often.

The chi-square value as well as the probability value (P < 0.05) of the first cross sepia eyes and ebony body mutations indicates that the gene for eye color and body color did not follow the 9:3:3:1 expected ratio which is why I rejected the hypothesis. The gene mutation for sepia eyes is found on the second chromosome and the gene mutation for ebony body is found on the third chromosome (Singh & Chatterjee 1989); (Sturtevant 1913). These two genes are not located on the same chromosome which means that crossing over did not occur between them. The two genes are independent of each other due to their locus. Since the two genes are located on different chromosomes, the inheritance pattern of sepia eyes has no effect on the

Albinism has been around since the seventeenth century. Cases have begun to show up all across the world in a multitude of countries. Over the past few decades new studies have allowed more information concerning this condition to be accessed.

Albinism is a congenital disorder associated with partial or total lack of pigmentation of the skin. Scientifically, this is referred to as the Oculocutaneous albinism (OCA) (). This condition is genetically inherited, passed from parents with carrier genes or those already with the disorder to their off springs. OCA is subdivided into two categories, OCA1 and OCA 2. OCA 2 is the most prevalent type of albinism found in Africa.

Albinism is a genetic disorder affecting the pigment of one’s eyes, skin, and hair. But, what really is albinism? How is it caused? What are the symptoms? Are there any treatments? In order to answer these questions, one must explore what albinism really is.

It is often recognized that skin pigment is associated with skin cancer risks as more melanin in the skin can help to protect individuals from sun damage. Though it is less understood, it has also been hypothesized that eye color could have implications about an individual’s susceptibility to skin cancer. This topic will be discussed below in regards to which genes are involved in both eye color and possible skin cancer risks. Furthermore, when it comes to understanding albinism, it important to recognize that not only is skin pigment influenced, but also eye-color and hair-color, thus it becomes apparent that iris pigment