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This page has been adapted from the Blind Babies Fact Sheet located at www.blindbabies.org.
Albinism
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 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. Often people do not recognize that they have albinism.
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.
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.
Symptoms of albinism may include the following: · very light skin color · blondish-white colored hair · eyes that are sensitive to light · visual impairments that require glasses or Teachers lenses, because normal levels of melanin are required for normal vision · tendency to sunburn easily, since there is not enough melanin to block ultraviolet rays
While some rare forms of albinism can cause hearing impairments or blood-clotting problems, most people with albinism have normal health. Children with albinism grow and develop normally and reach normal intelligence levels.
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 colored 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 Teachers 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 Teachers 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. Some states allow the use of bioptic telescopes for driving. (See also NOAH bulletin "Low Vision Aids.)
Optometrists or ophthalmologists who are experienced in working who have people with low vision can recommend various optical aids. Clinics should provide aids on trial loan, and provide instruction in their use. The American Foundation for the Blind (1-800-AFB-LIND) maintains a directory of low vision clinics.
Children with ocular albinism usually have nystagmus (an involuntary to and fro movement of the eyes). Many of these children will turn or tilt their head in a specific direction. If turning of the eye inward, outward or upward does not develop in the first few years of life, then therapy depends upon the specific head position. Surgically moving specific eye muscles in each eye will decrease the nystagmus, improve vision, and eliminate the unusual head position. I usually don't recommend this type of surgery until approximately age six to be sure that the favorite head position does not change. Some children with ocular albinism and nystagmus don't turn their heads. In these cases the inside (medial) and outside muscle (lateral)of each eye is relaxed (recessed) a large amount to decrease the eye movement.
Johnny & Edgar Winters (The Blues Brothers)
Yellowman (Reggae Icon)
PubMed Journal Search
Effective Retrovirus-Mediated Gene Transfer in Normal and Mutant Human Melanocytes
Genetic Screening available
The links below are the sources of our information and additional pages that you may find helpful.Blind Babies Fact Sheet
NOAH: The National Organization for Albinism and Hypopigmentation
Ocular Manifestations of Albinism (eMedicine)
Facts about Albinism
Albinism Database
Online Mendelian Inheritance in Man
Type I
Type Ib
Type II
Handbook of Ocular Disease Management
ACKNOWLEDGMENTS
Julie Bernas-Pierce, Editor
Janice Polizzi
Colette Altmann
Barb Lee
Dr. Greig Hoyt
Home Counselors
Dennak Murphy
Dr. William Good
Ann Silverrain
Off to a Good Start Program
The Pediatric Visual Diagnosis Fact Sheets are sponsored by a grant from the Blind Children's Center and with support from the Hilton/Perkins through a grant from the Conrad Hilton Foundation of Reno, Nevada
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© 2004 The ADVISOR Project
Page updated:
November 19, 2004