Albinism By Daneeka Lazaroo

What is Albinism?

https://aapos.org/terms/conditions/12

Albinism is a genetic condition which is inherited where the body is not able to produce normal colouring of the skin, hair and eyes. Some people may suffer from a lack of pigment to the eyes and skin and some, just the eyes.

Frequency of albinism?

Oculocutaneous albinism presents itself in about 1 in 20,000 persons. Ocular albinism occurs in about 1 in 50,000 persons.

http://www.dermaamin.com/site/atlas-of-dermatology/14-o/1025-oculocutaneous-albinism-.html http://www.merckmanuals.com/media/professional/photos/media/photos/albinism_ocular_findings_high.jpg

Particular communities that this genetic disorder is common in:

Some countries have a higher rate of albinism than others. In Southern Nigeria albinism occurs in about 20 out of every 100,000 people.

http://www.nhs.uk/conditions/albinism/Pages/introduction.aspx

Signs and Symptoms?

There are two main types of albinism: Oculocutaneous albinism whereby people with this condition have white skin and White hair. The dark brown pigment normally present in skin, hair and eyes is either absent or missing. The iris of the eye appears pink and the pupil appears red. The second main form of albinism is, Ocular albinism known Nettleship-Falls. The pigment in the skin and hair is normal except for in the eye. The eye colour is usually blue and in some cases the iris has very little colour so the eye looks pink or reddish. In some cases the hearing nerves may also be affected so the sufferer may have hearing problems or deafness.

How albinism works - https://session.wikispaces.com/1/auth/auth?authToken=c277b4b4114480457a35cc2b78881227

Genetics of albinism

Albinism is a recessive genetic chromosomal disorder, found in the ‘X’ chromosome. Males are likely to have this disorder as they only have one ' X ' chromosome. Women have two ‘X’ chromosomes so one chromosome can mask the effects of the abnormality. If one parent has the gene and the other parent has a normal pigment gene then their children won’t have oculocutaneous albinism. Each child though, will have a one in two chance of being a carrier. If a child that carries the gene grows and has a baby who also has the gene, then there is a one in four chance that the baby may have albinism. Since a carrier doesn’t show any signs of albinism, a baby can actually be born with albinism from people who appear a normal colour.

Pedigree on Albinism https://moodle.clsd.k12.pa.us/district_videos/Biology/iText/products/0-13-115540-7/ch14/ch14_s1_2_pr.html

Tests to identify albinism

If a child is born with lack of pigment at birth, the eyes and pigmentation of the skin will be observed over a period of time to determine if they have albinsim. The prognosis for people with albinism is overall, good as albinos are healthy except for perhaps their eyes and hearing if they have ocular albinism. Wearing sunglasses outdoors and prescription lens/tint is recommended to limit UV light exposure. Those with Oculocutaneous albinism will need to be careful in the sun and wear sunscreen to protect their skin. Also large brimmed hats and clothes that cover exposed areas is also recommended..

Bibliography

Albinism facts, information, pictures | Encyclopedia.com articles about Albinism. (n.d.). Retrieved from http://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/albinism

Albinism Symptoms - Mayo Clinic. (n.d.). Retrieved from http://www.mayoclinic.org/diseases-conditions/albinism/basics/symptoms/con-20029935

Albinism — AAPOS. (n.d.). Retrieved from https://aapos.org/terms/conditions/12

Albinism. (n.d.). Retrieved from http://kidshealth.org/en/teens/albinism.html

Britannica School. (n.d.). Retrieved from http://school.eb.com.au/?target=%2Flevels%2Fhigh%2Farticle%2Falbinism%2F5455

Porter Robert S . (2006). The Merck Manual of diagnosis and therapy. Merck Research Laboratories Pub.

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