By: Charlotte Lee
Albinism is a disease that affects your production of melanin. When you have this disease you will have little to no skin pigment, white hair, and eyes that appear red. You will also have problems with vision. 1 in 20,000 people have albinism worldwide.
- Skin- can range from white to brown: most commonly a reddish white
Hair-from very white to brown: most commonly very white
Eye color-range from very light blue to brown: light color eyes may appear red in some lighting
- Vision-rapid involuntary movement back in forth of the eyes, inability for both eyes to move in unison, extreme nearsightedness or farsightedness, sensitivity to light,& blurred vision
Mutation and Inheritance
Oculocutaneous albinism is a recessive inherited disease(aa). That means to get the disease you have to have a recessive gene passed down from each parent. The mutation occurs in the OCA2 gene which then affects the P protein.
Biology of the disease
In oculocutaneous albinism the gene OCA2 is mutated. OCA2 is responsible for producing the P protein. Since the gene is mutated the protein is not being correctly produced. The P protein is located in melanocytes. Melanocytes are the cells responsible for the production of melanin. Melanin is responsible for giving skin, hair, and eyes their color. Since the OCA2 gene is mutated the melanin is not being produced. This causes Albinism. People without the mutation would have properly pigmented skin, hair, and eyes.
Diagnosis, Treatment, and Ethical Implications
Doctors diagnose patients by getting the patients and/or the patient's parents to: complete a thorough eye exam, decide any change in pigmentation, complete a physical exam, and compare the difference in family members pigmentation. There is not much available treatment since it is a genetic disease, but people with albinism need to wear protective lenses and have annual eye checkups. Ethical implications for albinism would be: Deciding whither to keep the albino child once born, possible social outcast, and staying inside more because of the skin sensitivity.
Fun fact: Since Albinism affects your vision to get your license you have to use bioptic lenses.