called achromia,achromasia, or achromatosis is a congenital disordercharacterized by thecomplete or partial absenceof pigment in the skin, hairand eyes due to absence ordefect of tyrosinase, acopper-containing enzymeinvolved in the production ofmelanin
Albinism results from inheritance of recessive gene alleles andis known to affect all vertebrates, including humans.ALBINO- organism with complete absence of melaninALBINOID- an organism with only a diminished amount ofmelaninAlbinism is associated with a number of vision defects, such asphotophobia, nystagmus and astigmatism. Lack of skinpigmentation makes for more susceptibility to sunburn andskin cancers.
Oculocutaneous 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 typeOcular affecting the eyes only. persons 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.
Chediak-Higashi Syndrome of coloring all over the skin, but not completeTuberous Sclerosis small areas without skin coloringWaardenburg Syndrome often a lock of hair that grows on the forehead, or no coloring in one or both irises
A 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 PatchyMany forms of albinism are associated with the following symptoms: Crossed eyes (strabismus) Light sensitivity (photophobia) Rapid eye movements (nystagmus) Vision problems, or functional blindness
Genetic testing Electroretinogram test Reduce sunburn risk by avoiding the sun, using sunscreen, andcovering 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 eyeposition. Eye muscle surgery is sometimes recommended tocorrect abnormal eye movements (nystagmus).
Albinismdoes 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 cant tolerate the sun.