A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes which you will find in the OCA2 area.  

It is only fair, that when people look at me that they will argue that an albino has pink eyes..... why, because that is what they see.... though be it, a bit of an illusion. This is caused by the light catching my eyes and as I have no pigment in the lens of my eye, hence you will see the pinky reflection from the back of the eye, so you can be excused for assuming I am the stereotypical person with albinism...........

With me (Bianca), I am classed as a full Albino, with pink eyes and nystagmus, pale skin & white hair and visually classed as borderline Braille user but, Hey..... I can still spot a good looking guy at 10 paces... how I do that will be explained in the page "What do I see as an Albino".

Vision Problems: (top) People with albinism always have some problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use Braille. Some have vision good enough to drive a car.

Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye exam.

Types of Albinism: (top) While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced Ock-you-low-kew-Tain-ee-us) albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

Over the years researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored, and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged, and vision often corrects to 20/60. Early descriptions of albinism called these main categories of albinism "complete" and "incomplete" albinism. Later researchers used a test that involved plucking a hair root, and seeing if it would make pigment in a test tube. This test separated "ty-neg" (no pigment) from "ty-pos" (some pigment). Further research showed that this test was inconsistent, and added little information to the clinical exam.

Recent research has used analysis of DNA, the chemical which encodes genetic information, to arrive at a more firm classification system for albinism. Type 1 albinism (also called tyrosinase-related albinism) is the type involving almost no pigmentation. Type 1 albinism results from a genetic defect in an enzyme called tyrosinase. This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a "building block" of protein, and comes from protein in the diet.) Type 2, a type with slight pigmentation, results from a defect in a different gene called the "P" gene.

Researchers have identified several other genes that cause forms of albinism. In one form of albinism, the Hermansky-Pudlak syndrome, there can be problems with bleeding, and with lung and bowel disease as well. Hermansky-Pudlak syndrome is a less common form of albinism, but should be suspected if a child with albinism shows unusual bruising or bleeding.

Genetics of Albinism: (top) For nearly all types of albinism both parents must carry an albinism gene to have a child with albinism. Because the body has two sets of genes,a person may have normal pigmentation but carry the albinism gene. If a person has one gene for normal pigmentation and one gene for albinism, he or she will have enough genetic information to make normal pigment. The albinism gene is "recessive" it does not result in albinism unless a person has two copies of the gene for albinism and no copy of the gene that makes normal pigment.

When both parents carry the gene, and neither parent has albinism, there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance.

Each parent of a child with oculocutaneous albinism must carry the gene. Both the father and the mother must carry the gene for albinism. For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a gene for albinism. Researchers have analyzed DNA of people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Therefore the tests for the gene may be inconclusive.

If parents have had a child with albinism previously, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses amniocentesis (placing a needle into the uterus to draw off fluid). Cells in the fluid are examined to see if they have an albinism gene from each parent.

For specific information and genetics and testing, seek the advice of a Doctor qualified in genetics. Genetic Doctors are usually associated with universities and children's hospitals.  Those considering prenatal testing should be made aware that people with albinism can adapt well to their disabilities, and lead fulfilling lives.

Vision Rehabilitation: Eye conditions common in albinism include

• Nystagmus, irregular rapid movement of the eyes back and forth.
• Strabismus, muscle imbalance of the eyes ("crossed eyes" or "lazy eye")
• Sensitivity to bright light and glare.
• People with albinism may be either far-sighted or near-sighted, and often have astigmatism (distortion of a viewed image).

These eye problems result from abnormal development of the eye because of lack of pigment. The retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy. The nerve signals from the retina to the brain do not follow the usual nerve routes. The iris, the coloured area in the center of the eye, does not have enough pigment to screen out stray light coming into the eye. (Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well.)

For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not provide fine binocular vision. In the case of esotropia or "crossed eyes," surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).

 

People with albinism are sensitive to glare, but they do not prefer to be in the dark, and need light to see just like anyone else. Sunglasses or tinted contact lenses help outdoors. Indoors, it is important to place lights for reading or close work over a shoulder rather than in front.

 

Various optical aids are helpful to people with albinism, and the choice of an optical aid depends on how a person uses his or her eyes in jobs, hobbies, or other usual activities. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes. Some use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that one can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses.

 

I use a CCTV at home and single binocular...... the CCTV is invaluable as it allows me to read normal printed magazines, Newspapers, etc. This is an expensive aid (upwards of £2,500 new) but help can be got from various charities of which the R.N.I.B. will be able to advise and direct you.

 

Optometrists or ophthalmologists who are experienced in working who have people with low vision can recommend various optical aids according to each individuals specific needs BUT, only the individual can tell you which one works for him or her.  Clinics/companies normally can provide aids on trial loan, and provide instruction in their use prior to purchase. NOVA software is readably available for the computers and compatible to Microsoft (magnification & scrolling facilities) The R.N.I.B. for the Blind (look in your local directory) maintains an information centre of low vision clinics and assistance.

 

Medical Problems: (top) In the United Kingdom, people with albinism live normal life spans and have the same types of general medical problems as the rest of the population. The lives of people with Hernansky-Pudlak syndrome can be shortened by lung disease or other problems. In tropical countries, those who do not use skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreen lotions rated 20 or higher, and opaque clothing, people with albinism can enjoy outdoor activities even in summer.

 

People with albinism are at risk of isolation, because the condition is often misunderstood. Social stigmatisation can occur, especially within communities of colour, where the race or paternity of a person with albinism may be questioned. Families and schools must make an effort not to exclude children with albinism from group activities.

 

Contacting others with albinism or who have albinism in their families is most helpful. NOAH, Albinism Fellowship, and others (see Links Page) can provide the names of contacts in many regions of the country that can help and advise on a more personalised basis............... 

 

.......or you can just get in contact with me, Bianca, for help on everyday life from a young persons perspective............. 

Other Resources

Technical updates on genetics are accessible via internet from Online Mendelian Inheritance in Man, address http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html

This information was bought to you through the assistance of NOAH (see Links Page).

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