What isAlbinism?<br />Albinism(from Latin albus ‘’white’’)  is a congenital disorder  characterised by the partial or comp...
Albinism classification in humans<br />There are two main categories of albinism in humans:-<br />Oculocutaneous albinism ...
Oculocutaneous albinism type1(OCA1)- It is tyrosinase – related albinism results from a genetic defect in an enzyme called...
Oculocutaneous albinism type3(OCA3)-It is rarely described and results from a genetic defect in TYRP1, a protein related t...
Ocular albinism(OA1)-<br />It is caused by a change in the GPR143 gene that plays a  signalling role that is especially im...
CVS(chorionic villous sampling)-cells in the fluid is examined to see if they have  an albinism gene from each parent.<br />
Vision rehabilitation<br />Eye problems in albinism result from abnormal development of the eye because of lack of pigment...
Visual modifications<br />The human eye normally produces enough pigment to color the iris and lend opacity to the eye.how...
Albino’s have poorly developed (RPE)<br />
Skin modifications<br />Most albinistic humans appear white or very pale as the melanin pigments responsible for brown,bla...
Upcoming SlideShare
Loading in …5
×

Albinism presantation

4,687 views

Published on

this presentatation is dedicated to all those unfortunate albino patients.

Published in: Education, Technology, Business
1 Comment
7 Likes
Statistics
Notes
No Downloads
Views
Total views
4,687
On SlideShare
0
From Embeds
0
Number of Embeds
3
Actions
Shares
0
Downloads
0
Comments
1
Likes
7
Embeds 0
No embeds

No notes for slide

Albinism presantation

  1. 1.
  2. 2. What isAlbinism?<br />Albinism(from Latin albus ‘’white’’) is a congenital disorder characterised by the partial or complete absence of the pigment in the skin,hair,eyes due to absence or defect of an enzyme involved in the production of melanin(pigment) .<br />Albinism results from inheritance of recesssive gene alleles.<br /> Albinism is known to affect all vertebrates(including humans).<br />Albino patients<br />
  3. 3. Albinism classification in humans<br />There are two main categories of albinism in humans:-<br />Oculocutaneous albinism (OCA)– This type of albinism is characterised by lack of pigments in eyes,skin,hair .<br />It is of 4 types-OCA1(OCA1A,OCA1B), OCA2. OCA3,OCA4.<br />Ocular albinism(0A)- People having ocular albinism only lacks pigment in the eyes.They usually have normal skin and hair color,although its typically lighhter than either parent.<br />
  4. 4. Oculocutaneous albinism type1(OCA1)- It is tyrosinase – related albinism results from a genetic defect in an enzyme called tyrosinase. This enzyme helps the body to change amino acid tyrosine into the pigment.<br /> There are two subtypes of OCA1(OCA1A and OCA1B).<br />OCA1A- In OCA1A,The enzyme is inactive and no melanin is produced,leading to white hair and very light skin.<br />OCA1B-In OCA1B,The enzyme is minimally active and a small amount of melanin is produced,leading to hair that may darken to blonde,yellow/orange or even light brown,as well as slightly more pigment in the skin.<br />Oculocutaneous albinism type2(OCA2)-It is a P-gene albinism results from a genetic defect in the p-protein that helps the tyrosinase enzyme to function.Individuals with OCA2make a minimal amount of melanin pigment and can have hair color ranging from very light blonde to brown.<br />
  5. 5. Oculocutaneous albinism type3(OCA3)-It is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment.<br />Oculocutaneous albinism type4(OCA4)-It 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 withOCA2.<br />
  6. 6.
  7. 7. Ocular albinism(OA1)-<br />It is caused by a change in the GPR143 gene that plays a signalling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on X chromosome. Female has 2 copies of X chromosomes while males have only one copy(another Y). To have Ocular albinism, a male only need to inherit one changed copy of the gene for ocular albinism from his carrier mother. Therefore almost all the people with OA1 are males.<br />NOTE- <br />If female child is said to have ocular albinism, their parents should be suspicious.while possible if the mother is a carrier of ocular albinism and father has ocular albinism,it is extremely rare case.<br />
  8. 8. CVS(chorionic villous sampling)-cells in the fluid is examined to see if they have an albinism gene from each parent.<br />
  9. 9. Vision rehabilitation<br />Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include:<br /> Nystagmus- Regular horizontal back and forth movement of the eyes.<br />Strabismus- Muscle imbalance of the eyes “crossed eyes”(esotreopia) “lazy eye” or an eye that deviates out(exotropia).<br />Photophobia- Sensitivity to bright light and glare.<br />Refractive error- People with albinism may be either farsighted or near sighted and usually have astigmatism.<br />Fovea hypoplasia- The retina , the surface inside the eye that receives light,does not develop normally before birth and in infancy.<br />Optic nerve misrouting- The nerve signals from the retina to the brain does not follow the usual nerve routes.In albinistic patients, light can pass through the iris as well due to lack of pigment.<br />
  10. 10. Visual modifications<br />The human eye normally produces enough pigment to color the iris and lend opacity to the eye.however, there are cases in which eyes of an albinistic patients appear red or purple depending upon the amount of pigment present. This visual problems associated with albinism arise from a poorly developed Retinal Pigment Epithelium(RPE) due to lack of melanin.<br />
  11. 11. Albino’s have poorly developed (RPE)<br />
  12. 12. Skin modifications<br />Most albinistic humans appear white or very pale as the melanin pigments responsible for brown,black colorations are not present.Because they lack the dark pigment melanin, which helps protect the skin burn more easily from overexposure.<br />The albinistic are generally healthy as the rest of the population with growth and development occurring as normal, and albinism by itself does not cause mortality, although the lack of pigment increases the risk of skin cancer and other related problems.<br />

×