ALBINISM

By: Janine Rumbaoa

ALBINISM called achromia, achromasia, or achromatosis is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin

Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans.

ALBINO- organism with complete absence of melanin

ALBINOID- an organism with only a diminished amount of melanin

Albinism is associated with a number of vision defects, such as photophobia, nystagmus and astigmatism. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.

TYPES OF ALBINISMOculocutaneous affecting the eyes, skin and hair people with this type of albinism have white or pink

hair, skin, and iris color, as well as vision problems. most severe type

Ocular affecting the eyes only. person's skin and eye colors are usually in the normal

range. However, an eye exam will show that there is no coloring in the back of the eye (retina).

Hermansky-Pudlak syndrome (HPS)

is a form of albinism caused by a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.

causes scarring of the lungs, or fibrosis, creating breathing difficulty and fatigue and leading to lung disease.

HPS interferes with platelet formation, making it difficult for cuts and wounds to heal. Many albinos bruise easily, have frequent nosebleeds, and or experience gum bleeding while brushing their teeth. HPS in women causes excessive bleeding during labor and monthly menstrual cycles.

LOCALIZED ALBINISMChediak-Higashi Syndrome of coloring all over the skin, but not complete

Tuberous Sclerosis small areas without skin coloring

Waardenburg Syndrome often a lock of hair that grows on the forehead, or no

coloring in one or both irises

SYMPTOMS OF ALBINISMA person with albinism will have one of

the following symptoms: Absence of color in the hair, skin, or iris of the eye Lighter than normal skin and hair Patchy

Many forms of albinism are associated with the following symptoms:

Crossed eyes (strabismus) Light sensitivity (photophobia) Rapid eye movements (nystagmus) Vision problems, or functional blindness

EXAMS AND TESTS Genetic testing Electroretinogram test

TREATMENT  Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.

Sunscreen should have a high sun protection factor (SPF).

Sunglasses (UV protected) may relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).

PROGNOSIS Albinism does not usually affect

lifespan. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems.

People with albinism may be limited in their activities because they can't tolerate the sun.