Albinism - Oculocutaneous and Ocular
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.
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.
NOAH - National Organization for Albinism and Hypopigmentation.
Healthline. Turkington, Carol A., The Gale Group Inc., Gale Encyclopedia of Medicine.
MedicineNet.com
The New York Eye and Ear Infirmary.
Handbook of Ocular Disease Management
webpages.marshall.edu/~stanton2/.Stanton, Frances. “Albinism: The Educational Implication”.