Summary about Disease
Albinism is a rare, inherited genetic condition that reduces or completely eliminates the pigment melanin in the skin, hair, and eyes. It's characterized by a partial or complete absence of pigment. People with albinism are at increased risk of sun damage and skin cancer. Vision problems are also common.
Symptoms
Skin: Absence of color (pigment), lighter than normal skin, skin that doesn't tan.
Hair: Can range from very white to brown. People of African or Asian descent with albinism may have hair color that is yellow, reddish, or brown. Hair color can darken with age.
Eyes: Blue eyes, or may range from hazel to brown. Functional problems include:
Nystagmus (rapid, involuntary eye movements)
Strabismus (crossed eyes)
Extreme nearsightedness or farsightedness
Photophobia (sensitivity to light)
Astigmatism
Vision problems or blindness
Causes
Albinism is caused by mutations in genes that affect the production or distribution of melanin. Most types of albinism are inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the mutated gene (one from each parent) to have albinism. In some rare forms, it is X-linked.
Medicine Used
There is no cure for albinism, and no specific medications to increase melanin production. Treatment focuses on managing symptoms and protecting against sun damage. This includes:
Vision Correction: Glasses or contact lenses to correct refractive errors.
Sun Protection: Sunscreen with a high SPF, protective clothing, and sunglasses.
Surgery: In some cases, surgery can be performed to reduce the severity of strabismus.
Is Communicable
No, albinism is not communicable. It is a genetic condition that is inherited, not an infectious disease that can be spread from person to person.
Precautions
Sun Protection: This is the most important precaution.
Wear sunscreen with an SPF of 30 or higher daily, even on cloudy days. Apply liberally and reapply every two hours, or more often if swimming or sweating.
Wear protective clothing, such as long sleeves, pants, and a wide-brimmed hat.
Wear sunglasses to protect your eyes from UV rays.
Avoid being outdoors during peak sun hours (10 AM to 4 PM).
Regular Skin Exams: See a dermatologist regularly to check for signs of skin cancer.
Eye Care: Regular eye exams are essential to monitor and correct vision problems.
Early Intervention: For children with albinism, early intervention services (e.g., visual aids, occupational therapy) can help them develop necessary skills.
How long does an outbreak last?
Albinism is not an outbreak and therefore cannot be measured in time. Since albinism is a genetic condition, it is present from birth and does not have a duration.
How is it diagnosed?
Physical Exam: A doctor can often diagnose albinism based on the appearance of the skin, hair, and eyes.
Eye Exam: A thorough eye exam can reveal vision problems associated with albinism.
Genetic Testing: Genetic testing can confirm the diagnosis and identify the specific gene mutation causing albinism.
Evoked Potential Test: This test can be used to assess the visual pathways in infants.
Timeline of Symptoms
At Birth: Reduced or absent pigment in skin, hair, and eyes is usually noticeable at birth.
Infancy/Childhood: Nystagmus, strabismus, and other vision problems are often diagnosed in infancy or early childhood.
Throughout Life: Sun sensitivity and increased risk of skin cancer persist throughout life.
Important Considerations
Emotional Support: People with albinism may face social stigma and discrimination due to their appearance. Support groups and counseling can be helpful.
Vision Aids: Magnifiers, large-print books, and other vision aids can help people with albinism adapt to their vision limitations.
Education: Education about albinism can help reduce stigma and promote understanding.
Genetic Counseling: Genetic counseling can help individuals and families understand the risks of passing on albinism to their children.