Albinism and its cause from the genetic point of view

Two major types of albinism are recognized in humans:

Albinism and its cause from the genetic point of view

How Is Albinism Treated? Albinism represents a group of conditions characterized by a defect in the production of the pigment melaninnormally found in skin, eyes, and hair.

Any one of a number of genes responsible for the production of melanin can lead to albinism. There are two major types of albinism: Oculocutaneous Albinism Is inherited in an autosomal recessive fashion.

Albinism and its cause from the genetic point of view

This means that both copies of the gene must be abnormal one inherited from each parent in order to manifest the disease. Having only one abnormal gene results in "gene carrier" status, which means that the individual does not manifest the disease.

Ocular Albinism Is inherited in an "X-linked" fashion.

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Females carry two X chromosomes, while males carry one X chromosome and one Y chromosome. Therefore, this disease affects primarily men, who need only one X chromosome with the albinism gene to manifest the disease.

Females with the albinism gene on one of their two X chromosomes may be "gene carriers" of the condition.

Albinism and its cause from the genetic point of view

Unlike oculocutaneous albinism, which affects the skin, hair, and eyes, ocular albinism affects primarily the eyes. The skin and hair may be only slightly less pigmented than unaffected siblings. How Does Albinism Affect the Eyes? Albinism can affect the eyes in multiple ways, and individuals with albinism can vary significantly in how much their eyes and vision are affected: People who have albinism have little to no pigmentation of the iris.

They also lack pigment in the "retinal pigment epithelial" cells that lie between the retina and the choroid.

How Does Albinism Affect the Eyes?

This gives a unique appearance to the retina and makes the underlying blood vessels of the choroid more visible. A normal retina with no signs of albinism. Courtesy Mrinali Patel Gupta, M. The lack of pigmentation makes the vessels of the choroid more visible and the retinal vessels have an abnormal course.

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People with albinism also have an underdeveloped fovea. The fovea is the part of the retina responsible for much of visual acuity. This is usually the abnormality that most affects vision in ocular albinism and oculocutaneous albinism. Depending on the degree of foveal underdevelopment, vision may be mildly or severely impaired.Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color.

Albinism is also associated with vision problems.


According to the National Organization for Albinism and Hypopigmentation, about 1 in 18, to 20, people in the United States have a form of albinism. The truth is that albinism is a hereditary disease with a strong genetic influence.

Though there are numerous variants of albinism, they tend to share a number of common challenges. Albinism is strongly correlated with blindness and many people with albinism are unable to . Chart and Diagram Slides for PowerPoint - Beautifully designed chart and diagram s for PowerPoint with visually stunning graphics and animation effects.

Our new CrystalGraphics Chart and Diagram Slides for PowerPoint is a collection of over impressively designed data-driven chart and editable diagram s guaranteed to impress any audience. This enzyme is located in melanocytes, which are specialized cells that produce a pigment called melanin) is the only gene in which mutations are known to cause oculocutaneous albinism type 1." Also, there is a table on the website but it does not justify the exact point mutation that .

In albinism, the melanocytes are present, but genetic mutations interfere with their pigment production or their ability to distribute it to keratinocytes, the major cell type comprising the. Dominant (AA, Aa) -overpowers the recessive allele.

-heterozygous. 5 Summary Of Albinism. Albinism a rare, inherited, disease that you are born with, causing a lack in pigment or.

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