Albinism

By Katie Morton

Skin Disorder Description

Mary is 30 years old and has had poor vision her entire life. Her parents do not look visually different from the people of their race, but Mary has inherited a recessive trait that prevents her body from producing adequate amounts of melanin.

Statistics


  • Overall, an estimated 1 in 20,000 people worldwide are born with albinism.
  • The rate of Albinism is highest in Tanzania and Burundi, where the disorder affects about 1 in every 1500 people.
  • People with albinism can synthesize Vitamin D about 5x faster than very dark-skinned individuals.
  • For people with albinism, their vision is many times in the range of 20/200.

Etiology

Albinism is caused by a mutation in one of several genes.


Each of these genes provides instructions for making one of several proteins involved in the production of melanin. A mutation may result in no melanin at all or a significant decline in the amount of melanin.

Melanin is produced by cells called melanocytes and is the natural substance that gives color (pigment) to hair, skin, and the iris.

Big image
In some types of albinism, a person must inherit two copies of a mutated gene — one from each parent — in order to have albinism (recessive inheritance).
Big image

Types of albinism, based mainly on which mutated gene caused the disorder, include:



  • Oculocutaneous albinism.
There are four types:
Type 1- gene mutation on chromosome 11.
Type 2- gene mutation on chromosome 15.
Type 3- gene mutation on chromosome 9.
Type 4- gene mutation on chromosome 5.


  • X-linked ocular albinism is the sex linked form of albinism. This form of albinism mostly occurs in males, and is a gene mutation found on the X chromosome.

Big image
Big image

Symptoms

Signs of albinism are usually, but not always, apparent in a person's skin, hair and eye color. However, all people with the disorder experience vision problems.

Skin

Although the most recognizable form of albinism results in white hair and pinkish skin, skin coloring (pigmentation) can range from white to brown, and may be nearly the same as that of parents or siblings without albinism.

For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in pigmentation. With exposure to the sun, some people may develop:


  • Freckles
  • Moles, with or without pigment — moles without pigment are generally pink-colored
  • Large freckle-like spots (lentigines)
  • The ability to tan


Hair

Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that's yellow, reddish or brown. Hair color may also darken by early adulthood.

Eye color

Eye color can range from very light blue to brown and may change with age.

The lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this, very light-colored eyes may appear red in some lighting. This occurs because you're seeing light reflected off the back of the eye and passing back out through the iris again — similar to the red-eye that occurs in a flash photo.

Vision


  • Rapid, involuntary back-and-forth movement of the eyes (nystagmus)
  • Inability of both eyes to stay directed at the same point or to move in unison (strabismus)
  • Extreme nearsightedness or farsightedness
  • Sensitivity to light (photophobia)
  • Abnormal curvature of the front surface of your eye or the lens inside your eye (astigmatism), which causes blurred vision
Big image
Big image

Treatment

Because albinism is a genetic disorder, treatment is limited. But getting proper eye care, like prescription lenses, and monitoring skin for signs of abnormalities are important.


Adults with albinism need annual eye and skin exams throughout their lives.



A complete diagnostic work-up for albinism includes a:


  • Physical exam
  • Description of changes in pigmentation
  • Thorough exam of the eyes
  • Assessment of child's skin to screen for skin cancer or lesions that can lead to cancer.


An ophthalmologist will perform an exam which includes an assessment of potential nystagmus, strabismus and photophobia. The doctor will perform a test called electroretinogram. He/she will use a device to visually inspect the retina (the light-detecting portion of the eye) and determine if there are signs of abnormal development. A simple test can measure the brain waves produced when light or a reversing pattern is flashed into each eye. This can indicate the presence of misrouted optical nerves.

Big image

Although surgery is rarely part of treatment for albinism, an ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable, but it won't improve vision.


Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease.

Prognosis

Albinos can live a normal life span, however, some forms of albinism can be life threatening.


Hermansky-Pudlak syndrome can shorten lifespan due to lung disease or bleeding problems.


People with albinism may be limited in their activities because they can't tolerate the sun.


Managing Symptoms


  • Use low vision aids, such as a hand-held magnifying glass, a monocular or a magnifier that attaches to glasses.
  • Apply sunscreen with a sun protection factor (SPF) of at least 30 that protects against both UVA and UVB light.
  • Avoid high-risk sun exposure.
  • Wear protective clothing.
  • Protect eyes by wearing dark, UV-blocking sunglasses or transition lenses that darken in bright light.

Impact on Lifestyle

Complications of albinism include skin disorders as well as social and emotional challenges.

Skin disorders

One of the most serious complications associated with albinism is the risk of sunburn and skin cancer.

Social and emotional factors

The reactions of other people to those with albinism can often have a negative impact on people with the condition.


  • Children with albinism may experience name-calling, teasing or questions regarding their appearance, eyewear or visual aid devices.
  • Many people with albinism find the word "albino" hurtful because they're being labeled simply on the basis of looks rather than being thought of as individuals.
  • People with albinism usually look very different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders.
  • All of these factors may contribute to social isolation, poor self-esteem and stress.
Albinism: Caught Between Dark and Light

The National Organization for Albinism and Hypopigmentation

NOAH is a 501(c)3 nonprofit that is federally tax exempt, incorporated in the state of Pennsylvania. We are a volunteer organization for persons and families involved with the condition of albinism. NOAH does not diagnose, treat, or provide genetic counseling. NOAH is involved in self-help, while trying to promote research and education.

Sources

"Albinism: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 02 Mar. 2006. Web. 06 Apr. 2016. <https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm>.


"Albinism." SunCFB1. Tangient LLC, n.d. Web. 06 Apr. 2016. <https://suncfb1.wikispaces.com/Albinism>.


Digital image. A.D.A.M., 02 Sept. 2004. Web. 6 Apr. 2016. <https://www.nlm.nih.gov/medlineplus/ency/imagepages/8781.htm>.


Digital image. Boston University. N.p., n.d. Web. 6 Apr. 2016. <http://sphweb.bumc.bu.edu/otlt/MPH-Modules/PH/PH709_DNA-Genetics/HumanChromosomes.jpg>.


Digital image. CHM Gene Therapy at University of Alberta. N.p., n.d. Web. 6 Apr. 2016. <http://www.chmgenetherapy.ca/wp-content/uploads/2012/12/X-Linked-carrier-mother.jpg>.


Digital image. How Stuff Works. N.p., n.d. Web. 6 Apr. 2016. <http://s.hswstatic.com/gif/albinism-2.jpg>.


Digital image. N.p., n.d. Web. 6 Apr. 2016. <http://file3.answcdn.com/answ-cld/image/upload/w_726,c_fill,g_faces:center,q_60/v1/tk/view/getty/Health/c1dc2768/95941407.jpg>.


Digital image. N.p., n.d. Web. 6 Apr. 2016. <http://userscontent2.emaze.com/images/6882896c-ff16-4879-85bb-2e8ed1dd134f/6788ac67-69a2-4826-8f30-598dde2ee872.jpg>.


Digital image. Science World Report. N.p., n.d. Web. 6 Apr. 2016. <http://images.scienceworldreport.com/data/images/full/10617/albinism.jpg>.


Mayo Clinic Staff. "Albinism." Mayo Clinic. Mayo Foundation for Medical Education and Research, 19 Apr. 2014. Web. 06 Apr. 2016. <http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935>.


"What Is Albinism? :: DNA Learning Center." DNALC Blogs. Cold Spring Harbor Laboratory, n.d. Web. 06 Apr. 2016. <https://www.dnalc.org/view/15932-what-is-albinism-.html>.


"23 Scarey Statistics of Albinism." HRF. HealthResearchFunding.org, 12 Dec. 2014. Web. 07 Apr. 2016. <http://healthresearchfunding.org/23-scarey-statistics-albinism/>.