Download Albinism - Oculocutaneous and Ocular

Albinism - Oculocutaneous and Ocular
Unfortunately,
people with
albinism always
have problems
with their vision.
Everyone with
oculocutaneous
albinism experiences abnormal
flickering eye
movements called
nystagmus.
Albinism is a rare congenital genetic disease where there is little or no pigment, known
as melanin, in the eyes, hair and skin. Vision problems always occur in albinism,
resulting from the abnormal development of the retina because of lack of pigment. Nerve
signals from the retina to the brain do not follow usual nerve routes because the retina
does not develop normally before birth and in infancy. Light, normally entering the eye
only through the pupil, may actually pass through the iris when the iris does not have
enough of the pigment to screen out the stray light.
From the past…
People born with the genetic condition albinism
have been the subjects
of public curiosity over
the centuries. Some
were even thought to
have supernatural powers such as mind reading
and were suspected of
witchcraft. Phineas Barnum employed "albinos"
to appear in his American Museum and as part
of his traveling sideshow,
such as the such as the
Lucasie family from
Holland
Treatments and Assistance
Glasses can be prescribed for reduced visual acuity. The appearance of strabismus may
be improved by surgery; but surgery will not correct the misrouting of nerves from the
eyes to the brain, and will not provide fine binocular vision. Sunglasses or tinted contact
lenses can be worn for light sensitivity. Low vision aids can improve independence.
There are 10 types of the most common form called "oculocutaneous albinism,"
which affects the eyes, hair, and skin. Ocular albinism is also an inherited condition
where the eye is primarily affected. A person with ocular albinism often has "normal
toned" hair and skin while the amount of pigment in the eye varies. People with the
condition may have reddish or violet eyes, but most have blue eyes. .
It is the presence of various eye problems that actually defines the diagnosis of
albinism. The main test for albinism, therefore, is simply an eye exam. The lack of
pigment in the eyes can cause one of the following visual or functional problems:
 Nystagmus – an irregular rapid (involuntary) back and forth movement of the
eyes.
 Strabismus – muscle imbalance of the eyes (“crossed eyes” or lazy eyes”).
 Photophobia – 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).
 Low vision or blindness –many have vision that is good enough to drive a car
but many others are “legally blind.” Most use their vision for reading and do not
use braille. Reduced visual acuity may range from 20/60 to 20/400 and
sometimes as good as 20/25 in African-Americans
Decreased distance vision and lack of detail vision impact a child’s ability to learn
through visual channels alone.
Fact sheet developed by Sharon Grissom
Resources
Cassin, Barbara (2006). Dictionary of eye terminology (5th ed.) (Melvin L. Rubin, MD, Ed.) (p 231). Gainesville, FL: Triad
Publishing Co.
http://www.albinism.org/publications/ocular.html NOAH - National Organization for Albinism and Hypopigmentation.
http://www.healthline.com/galecontent/albinism. Healthline. Turkington, Carol A., The Gale Group Inc., Gale Encyclopedia
of Medicine.
http://medgen.genetics.utah.edu/photographs/pages/ocular_albinism.htm
http://www.medterms.com/script/main/art.asp?articlekey=4340. MedicineNet.com
http://www.nyee.edu/faqlist.html?tablename=faq&key=5. The New York Eye and Ear Infirmary.
http://www.revoptom.com/HANDBOOK/SECT58a.HTM. Handbook of Ocular Disease Management
webpages.marshall.edu/~stanton2/. Stanton, Frances. “Albinism: The Educational Implication”.