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Transcript of Albinism
Hermansky-Pudlak syndrome History Earliest record found was in the 1800’s when albinistic twins, Eko and Iko, were used in the circus. Sources http://www.albinism.org/publications/what_is_albinism.html http://www.healthline.com/adamcontent/albinism
Being “legally blind”
Strabismus, Esotropia/Crossed eyes, Exotropia/Lazy eye
Foveal Hypoplasia/Retina doesn’t develop normally
Optic nerve misrouting/Nerve signals from retina to brain do not follow normal routes
Lighter skin, hair, or eye color than normal for their ethnic group
Light Sensitivity/Photophobia OCA1/Oculocutaneous albinism type 1:(tyrosinase-related) “results from a genetic defect in an enzyme called tyrosinase (hence ‘ty’ above). This enzyme helps the body to change the amino acid tyrosine into pigment. There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced.” OCA2/Oculocutaneous albinism type 2:(P gene albinism) “results from a genetic defect in the P protein that helps the tyrosinase enzyme to function. Individuals with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown.”
OCA3/Oculocutaneous albinism type 3: “is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment.” OCA4/Oculocutaneous albinism type 4: “results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function. Individuals with OCA4 make a minimal amount of melanin pigment similar to persons with OCA2.” The genes for OCA are found in autosomal chromosomes.
1 in 17,000 people in the US have albinism. Because albinism is genetic, there is still no real way to cure the condition, but it can be partially treated. Surgery to correct strabismus can improve the appearance of the eyes.
In esotropia or “crossed eyes,” surgery can help by expanding the visual field (the area that the eyes can see while looking at one point).
Those with photophobia can wear tinted glasses or contacts. Many optical aids are also used, such as glasses (bifocals, reading glasses, etc), bioptics (glasses with little telescopes mounted on them), and magnifying glasses
As far as the skin goes, it would be best to cover-up and/or wear sunblocks with high SPFs.