OCA1 Albinism

Albinism

Genetic Mutation Group Project

by Allan Fiallos, Jacob Schroeder, Fatima Soto, and Joel Ojeda

Common symptoms of OCA1

Hypersensitivity of skin

and eyes to sunlight.

One conventional way to solve this issue is to wear UV protective clothing and eyewear.

Absence of melanin pigmentation in hair, skin, and eyes.

• This is the case for albino individuals regardles of race.

What is the cause of albinism?

Vision Problems

• Eye Misalignment
• Rapid Eye Movement
• Functional Blindness

Albinism is caused by inheriting 2 recessive autosomal alleles of any type of albinism. At some point, a genetic mutation occured, causing the disorder to spread from parent to child.

Sources

Types of Albinism

1. http://anthro.palomar.edu/synthetic/sample.htm

2. http://www.visionfortomorrow.org/genetics-of-albinism/

3. http://www.ncbi.nlm.nih.gov/books/NBK1166/

4.https://books.google.com/books?id=rp0yBwAAQBAJ&pg=PT107&lpg=PT107&dq=what+is+the+frequency+of+albinism+in+the+general+population+of+the+United+States&source=bl&ots=OU_6Dzjqai&sig=B5fFkmvzdZQn9CBFD74QKJVABCc&hl=en&sa=X&ved=0ahUKEwiz_diy-bvJAhVEYiYKHflHDOMQ6AEIKzAC#v=onepage&q=what%20is%20the%20frequency%20of%20albinism%20in%20the%20general%20population%20of%20the%20United%20States&f=false

Ocular Albinism (OA)

Oculocutaneous Albinism (OCA)

• Types 1, 2, 3, & 4.

Hermansky-Pudlak Syndrome (HPS)

Chediak-Higashi Syndrome

Griscelli Syndrome (GS)

Frequency of Albinism In The US

In the United States, 1 in 20,000 people have albinism.

The most common type of albinism is OCA, which is what the remainder of this presentation will cover.

See the Hardy-Weinberg Worksheet for more information on albinism in the general U.S. population.

Frequency of Albinism within subpopulations in the US

African-Americans and Caucasion populations are generally more affected by OCA.

• 1 in 28,000 African-Americans have some form of OCA.
• 1 in every 40,000 Caucasions have some form of OCA.

Potential Areas of Research

Complications of Albinism

Genetic Modification Research

Treatment of albinism.

Although albinism can not be cured, there are certain measure that can be taken to manage the effects of this disorder.

• These are discussed within the next three bubbles.

Emotional and Social Challenges

• With studies in genetic modification and testing, a potential fix for the disease could be replacing the recessive alleles that causes albinism with the dominant alleles.

On a day to day basis:

• Today's society seems to outcast albinos.
• In adolesence, albinos are ridiculed and badgered.
• Simply discriminated against for the way they look.

Risk of sunburn and skin cancer.

Ways to manage this risk:

• High SPF Sunscreen
• UV Protective Eyewear
• Special UV Protective Clothing

Vision Impairment and Blindness

• The lack of pigment in the eyes of albinos leads to varying degrees of vision impairment up to blindness.
• Misalignment of eyes.
• Sensitivity of eyes to sunlight.

- Laser eye corrective surgery can drastically improve these issues.