The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that 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. However, all forms of albinism are associated with vision problems.
People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are “legally blind,” but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision 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 examination.
While most people with albinism are fair in complexion, skin or hair color is not diagnostic of albinism. People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing.
Types of Albinism
While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, 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 may be better. Early descriptions of albinism called these main categories of albinism “complete” and “incomplete” albinism
Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include:
- Nystagmus: regular horizontal back and forth movement of the eyes
- Strabismus: muscle imbalance of the eyes, “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia)
- Photophobia: sensitivity to bright light and glare
- People with albinism may be either far-sighted or near-sighted and usually have astigmatism
- Foveal hypoplasia: the retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy
- Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the usual nerve routes
- The iris, the colored area in the center of the eye, has little to no 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 improve eyesight or 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 they 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 and some prefer to use screen magnification products on computers.
Some people with albinism 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. Some states allow the use of bioptic telescopes for driving.
Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide aids on trial loan and provide instruction in their use. The American Foundation for the Blind maintains a directory of low vision clinics In Canada, support is available from the Canadian National Institute for the Blind.
Genetics of Albinism
The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective 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.
Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.
For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many 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. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.
If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.
For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.