Albinism

Kristen Cerney

What is Albinism?

Albinism is a recessive inherited defect in the melanin metabolism. Melanin is a dark biological pigment, and results as the product of amino acid tyrosine. Someone with Albinism has loss in pigment from hair, skin, and eyes. (Oculoctaneous Albinism) Ocular Albinism is when the pigment is missing only from your eyes.

Inheritance

  • Most common in some Native American tribes and in southwestern portion of US
  • Inherited in all races of humans around world
  • Occurs when melanocytes (melanin-producing cells) do not produce melanin.
  • The gene carrying defect is recessive, both parents must carry recessive gene to have a child with this condition
  • X-linked
  • Recessive gene for defect located on X chromosome
  • Appears exclusively in males who get gene from their mom
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Chances in Getting Albinism

  • If both parents have recessive genes, 1 in 4 chance w/ each pregnancy their child will have defect
  • 1% of US population, affects people in ages 10-30 years
  • 30% of those who have vitiglio have family members w/ condition

Do I have Albinism?

To see if you have this defect, there are a few ways you can do it. The first way is genetic testing. Genetic testing is the sequencing of DNA to figure out it's condition, mutations of differences it might have. This way is most likely the most efficient way considering this is an inherited disease. The second way you can know, is your appearance. Your doctor may look at your skin, hair, and eyes to get the result. The third and final way is a electrorectinogram, which is a test that can reveal vision problems due to albinism.

Symptoms & Genes

Symptoms

  • Absence of hair, skin, or iris of the eye
  • Lighter than normal skin and hair
  • Patchy, missing skin color
  • Crosses eyes (strabismus)
  • Light sensitivity (Photophobia)
  • Rapid eyes movements (nystagmus)
  • Vision problems, of functional blindless


The 4 types of albinism


TYR, OCA2, TYRP1, or SLC45A2

Changes in TYR gene = Type 1

Mutations in OCA2 gene = Type 2

TYRP1 mutations = Type 3

Changes in SLC45A2 = Type 4


All of these genes are involved in producing a pigment (Melalin) Effects skin, hair, and eyes color.

In retina, melalin can also effect your vision. Mutations in any genes disrupt ability of cells to make melalin. Lack of melanin in retina leads to vision problem.


Alternations in MC1R can change appearance in people with

Treatments

You cannot cure Albinism but you can relieve symptoms

Treatment involves protection from sun

Use suncreeen (high sun protection facotor, SPF) and cover up UV

UV protected glasses

Eye muscle surgery is sometimes recommended for abnormal eye movements