Albinism

Albinism in animals
– pictured is a fox.
 ALBINISM

Causes
There are several different types of albinism, each with its own cause. Classifying types of
albinism typically depends on which gene contains the mutation. In oculocutaneous albinism, the
mutation occurs in one of four genes. The signs and symptoms of this type show in ocular, cutaneous,
hair, and iris color.
Oculocutaneous albinism 1 contains a mutation in a gene on chromosome 11. Symptoms include
milky white skin, white hair, and blue eyes at birth. While some may never show changes in
pigmentation, others may begin to produce melanin during adolescence – irises may change color and
lose some translucence, skin may tan somewhat, and the hair may turn golden blond or brown.
Oculocutaneous albinism 2 contains a mutation in a gene on chromosome 15, commonly found
in Sub-Saharan Africans and African-Americans. The hair may be yellow, auburn, ginger or red; the eyes
could be blue-gray or tan; the skin is white at birth. For those of African descent, the skin can appear
light brown. For those of Asian or Northern European descent, the skin is usually white. With exposure
to sun, overtime the skin may develop freckles, moles, or lentigines.
Oculocutaneous albinism 3, although rare, contains a mutation in a gene on chromosome 9,
primarily occurring in black South Africans. Symptoms include reddish-brown skin, ginger or reddish
hair, and hazel or brown eyes.
Oculocutaneous albinism 4 contains a mutation in a gene on chromosome 5. This form is also
rare and shows symptoms similar to type 2. Of those affected, most are of Japanese descent.
X-linked ocular albinism occurs almost exclusively in males as it contains a mutation of a gene on
the X chromosome. Skin, hair, and eye color are generally either in the normal range or only slightly
lighter than the rest of the family; however, those affected have the developmental and functional
vision problems of albinism.

Treatment
Due to the fact that albinism is a genetic disorder, treatment is limited. People with the disorder
most likely will require prescription lenses to improve vision and should receive annual examinations by
an ophthalmologist.
 An annual assessment of the skin to screen for skin cancer or lesions is necessary. Adults with
albinism require annual skin and eye exams for their entire lives.
Rarely an ophthalmologist will suggest surgery on optic muscles. Correcting strabismus via
surgery, while making the condition less noticeable, will not improve vision.
Most treatment options only intend to relieve symptoms. Skin and eyes need protection from
the sun. Sunscreen should have a high sun protection factor, and wearing sunglass may relieve light
sensitivity.

Prevention
Albinism is an inherited disease. Because of this, people with a family history of albinism or
hypopigmentation should consider genetic counseling.

Interesting Facts
Contrary to popular belief, those with albinism do not have red pigmentation in their
irises. Rather, the red appearance comes from blood vessels showing through the blank iris.
Due to the effects on vision, people with albinism may not be permitted to drive.
 Works Cited

"Albinism: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of

Health. 15 Nov. 2010. Web. 22 Nov. 2010.
<http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm>.
"Information for Students Assigned a Report on Albinism." NOAH. The National Organization for
Albinism and Hypopigmentation. Web. 22 Nov. 2010.
<http://www.albinism.org/faq/report.html>.
Mayo Clinic Staff. "Albinism - MayoClinic.com." Mayo Clinic Medical Information and Tools for Healthy
Living - MayoClinic.com. 4 Apr. 2009. Web. 22 Nov. 2010.
<http://www.mayoclinic.com/health/albinism/DS00941>.