Living with Albinism
Albinism is an inherited condition present at birth, characterized by a lack
of pigment that normally gives color to the
skin, hair, and
eyes. Many types of albinism exist, all of
which involve lack of pigment in varying degrees.
People with albinism always have 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.
albinism, which affects the eyes, hair, and skin. In its most severe form,
hair and skin remain pure white throughout life
Ocular albinism, in which only the eyes lack color; skin and hair are
Hermansky-Pudlak Syndrome (HPS) is a rare type of albinism which
includes a bleeding tendency and lung disease. HPS may also include
disease or kidney disease. The severity of these problems varies much
from person to person. It should be suspected in any child with albinism who
shows easy bruising or unusual bleeding, such as repeated nosebleeds or
For those with albinism, one of the following will be present:
Absence of pigment from the hair, skin, or iris of eyes
Patchy absence of pigment (skin color, patchy)
Lighter than normal skin and hair
Many forms of albinism have some of the following possible symptoms:
Rapid eye movements (nystagmus)
Strabismus (eyes not tracking properly)
Photophobia (avoidance of light because of discomfort)
Decreased visual acuity or even functional blindness
Albinism is an inherited problem caused by a flaw in one or more of the
genes that are responsible for directing the eyes and skin to make melanin
(pigment). As a result, little or no pigment is made, and the child's skin, eyes
and hair may be colorless.
It's also possible to inherit one normal gene and one albinism gene. In this
case, the one normal gene provides enough information in its cellular blueprint
to make some pigment, and the child will have normal skin and eye color. They
"carry" one gene for albinism. If both parents are carriers with one flawed gene
each, they have a 1 in 4 chance of passing on both copies of the flawed gene to
the child, who will have albinism.
Recently, a blood test has been developed that can identify carriers of the
gene for some types of albinism; a similar test during
amniocentesis can diagnose some types of
albinism in an unborn child. A chorionic villus sampling test during the
fifth week of pregnancy may also reveal some types of albinism.
The specific type of albinism a person has can be determined by taking a good
family history and examining the patient and several close relatives.
The "hairbulb pigmentation test" is used to identify carriers by incubating a
piece of the person's hair in a solution of tyrosine, a substance in food which
the body uses to make melanin. If the hair turns dark, it means the hair is
making melanin (a "positive" test); light hair means there is no melanin. This
test is the source of the names of two types of albinism: "ty-pos" and "ty-neg."
There is no treatment that can replace the lack of melanin that causes the
symptoms of albinism. Doctors can only treat, not cure, the eye problems that
often accompany the lack of skin color.
Patients with albinism should avoid excessive exposure to the
sun, especially between 10 a.m. and 2
p.m. If exposure can't be avoided, they should use UVA-UVB sunblocks with an
SPF of at least 20.
carotene may help provide some skin color, although it doesn't protect
against sun exposure.
of glasses is recommended and can be tinted to ease pain from too much sunlight.
There is no cure for involuntary eye movements (nystagmus), and treatments for
focusing problems (surgery or contact
lenses) are not effective in all cases.
glasses, hand-held and stand magnifiers, and microscopes are near vision aids
that help people with albinism read, look at pictures, diagrams, and maps, and
accomplish other tasks that require seeing small details up close.
Reading glasses help the user focus on text or other objects while holding the
object close to the user's eyes. Reading glasses allow the widest field of view
for reading compared to other aids. Hand-held and stand magnifiers enlarge
close-up images, allowing the user to see small print and images at greater
distances from the user's eyes. There are many different styles and sizes of
magnifiers useful for people with albinism. Microscopes help people see smaller
details than magnifiers produce. Microscopes enlarge close up objects the same
way telescopes enlarge far away objects. Some telescopes and bioptic telescopes,
designed for distance vision, also allow the user to refocus the scope for