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 (OCA1), with pink eyes (in appearance due to a clear eye lens) 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".

For this bit I hand it over to Dad while I sit behind him with a nice cool drink, putting in my 5 pennith :o)

 

Vision Problems: (contents) People with albinism always have problems with vision, and many have low impaired 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.

See also, Genetics of albinism and Eye Conditions in Albinism.... To be honest, you will be better off just reading the whole lot if you want to understand it fully........

Types of Albinism: (contents) While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced Ock-you-low-kew-Tain-ee-us) albinism (OCA2) 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 (OCA1) types of albinism, hair and skin are cream-coloured, and vision is often in the range of 20/200 or worse.

In types (OCA2) 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 far less common form of albinism, but should be suspected if a child with albinism shows unusual bruising or bleeding.

Genetics of Albinism: (contents) 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.  These statistics are only based on theory, no one really knows for sure and theories are being dispelled along the way for one reason or another. Albinism & Albino's are a constant head scratching condition for the medical profession and will continue to be so for some time to come. We are making headway, from the birth of Bianca in 82 till now the theories, facts? that have been dispelled during that time and the great advancements that have been made along the way but we are not there yet..........

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 analysed 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 foetus 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.

(Two Albino's produce an albino child) In conclusion and a common misconception is that two people with albinism will automatically produce an albino child.  This is NOT the case...... Annette (OCA1), a good friend of ours (picture on montage page with Bee) married Paul who also has albinism and they produced two brown haired, brown eyed boys..... so regardless of what the medical profession or others say, it is more the like, to be fair but, not a 100% guarantee in any shape or form......

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 centre 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 centre 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.

 

Eye conditions associated with Albinism: (a bit more technical) (contents)

People with albinism are not "blind," but their vision (also called visual acuity) is not normal, and cannot be corrected completely with glasses. This is sometimes a problem at schools as the teachers assume that glasses will resolve the problem, in some cases yes, BUT and it is a big BUT not in all, as you will see further on in this section.  Extreme far-sightedness or near-sightedness, and astigmatism are common (see the definitions below...... we know, this is where it becomes a bit of a mouthful) and correction with glasses can improve acuity in many people with albinism. Corrected visual acuity ranges from 20/20 (can see at 20 feet what should be seen at 20 feet; normal.... hey, that bit was easy eh! ummm, don't get to comfortable) to 20/400 (see at 20 feet what should be seen at 400 feet; legally blind). To achieve normal or near-normal vision is unusual, however, even when glasses are worn for reasons we will now get into........ hold tight........

Nystagmus (nye-STAG-muss), which is an involuntary movement of the eyes back and forth. Many people with albinism learn to use a head tilt or turn that decreases the movement and helps improve vision. Think about it..... line goes up, Bee tilts head, eyes now flickering but with head tilted, they now go along the line not across it.... hence, less blur...... clever really :o) Of course if line is at the level..... no need to tilt Bee's head, just thought we would put that bit in......

treatment;

For Nystagmus, research has searched for an effective treatment over many years which helps in all cases. Attempted treatments to control Nystagmus have included biofeedback, contact lenses, and surgery. The most promising may be eye muscle surgery that reduced the movement of the eyes, (see TShields letter on Nystagmus in our forum); however, vision may not improve in all cases due to other associated eye abnormalities but pro rata, the vision improves as it reduces the flickering back and forth. People with albinism normaly find ways of reducing Nystagmus while reading, such as placing a finger by the eye, or tilting the head at an angle where Nystagmus is dampened as previously mentioned.

Strabismus (strah-BISS-muss), which means that the eyes do not fixate and track together, like monoscopic vision, normal eyes look in stereoscopic (both eyes linked). Despite this condition, people with albinism do have some depth perception, although it is not as sharp as when both eyes can work together. Strabismus is also common in albinism and is related to the altered development of the optic nerves. This condition in albinism is usually not severe and tends to alternate between involving the right and the left eye.

treatment;

For this, ophthalmologists prefer to treat infants starting at about six months age, before the function of their eyes has developed fully. They may recommend that parents patch one eye to promote the use of the non-preferred eye.  In other cases, the alignment of the eyes improves with the wearing of glasses. Correction of strabismus by surgery or by injection of medicine into the muscles around the eyes for older patients does not completely correct the problem with both eyes fixing on one point, there may be still a small variant in the alignment, though this will be a substantial improvement on its original position. Although these treatments may improve the alignment of the eyes and enhance psycho-social development and interpersonal interactions, they cannot correct the improper routing of the nerves to the brain. Depth perception is not improved with eye muscle surgery.  This is one area that Bee is considering as she has the condition.........

Photophobia (FOE-tow-FOE-bee-ah), Sensitivity to light. The iris allows "stray" light to enter the eye and cause sensitivity. Contrary to a common idea, this sensitivity does not limit people with albinism from going out into the sunlight. Though squinting becomes a little of the norm.

treatment;

For photophobia, eye doctors can prescribe dark glasses that shield the eyes from bright light or, photochromic lenses that darken on exposure to brighter light.  Dark glasses will not necessarily improve vision, even if used at a very early age, but they may improve comfort. Many children and adults with albinism do not like tinted lenses, Bee is one of them, most will benefit more from wearing a cap or a visor when outdoors in the sun, however, some do not like that because they feel it draws attention to themselves, so best let them tell you what they want, you can only suggest.

Iris colour is usually blue/grey or light brown. It's a common notion that people with albinism must have red eyes, but in fact the colour of the iris varies from a dull grey to blue to brown in most or as in Bee's case, her lens is clear (no pigment). (A brown iris is common in ethnic groups with darker pigmentation.) Under certain lighting conditions, there is a reddish or violet hue reflected through the iris, which has very little or no pigment. This reddish reflection comes from the retina, which is the surface lining the inside of the eye, to you and me....... the tissue/muscles. This reddish/pink reflection is similar to that which occurs when a flash photograph is taken of a person looking directly at the camera, and the eyes appear red. With some types of albinism the red colour can reflect back through the iris as well as through the pupil.

One major condition of the eye in albinism involves lack of development of the fovea (also known as foveal hypoplasia,....... hey! don't ask me how to pronounce that one). The fovea is a small but most important area of the retina, in the inside of the eye. The retina contains the nerve cells that detect the light entering the eye and transmit the signal for the light to the brain. The fovea is the area of the retina which allows sharp vision, such as reading, and this area of the retina does not develop in albinism. It is not known why the fovea does not develop normally with albinism, but it is related to the lack of melanin pigment in the retina during development of the eye. The developing eye seems to need melanin for organising the fovea.

A specific condition of the eye in albinism, involves the development of the nerves that connect the retina to the brain. People with albinism have an unusual pattern for sending nerve signals from the eye to the brain. The nerve connections from the eye to the vision areas of the brain are organised differently from normal. This unusual pattern for nerve signals probably prevents the eyes from working well together, and causes reduced depth perception.

 

Medical Problems: (contents)

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 but this would be the case with normally pigmented people.  If they use appropriate skin protection, such as sunscreen 'Total Block' or at least lotions rated 30 or higher and opaque clothing, people with albinism can enjoy outdoor activities even in the height of summer, within reason of course.

 

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, using the old motto, "where there is a will, there is a way".

 

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............. or my family and get their point of view.

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Other Resources

This information was collated from various resources which you will find credited on the Links Page.

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