Albinism – Symptoms and Causes

Overview

Albinism is a genetic condition where the body doesn’t produce enough melanin. Melanin is the substance that gives color to skin, hair, and eyes. The most common form is oculocutaneous albinism (OCA), which affects both the skin and eyes.

People with albinism typically have lighter skin, hair, and eye color than others in their family. These differences can range from obvious to quite subtle.

The lack of melanin also causes vision problems, since this pigment helps with eye development and function.

Sun protection is crucial for those with albinism. Their skin has less natural protection against UV rays, making them more vulnerable to:

• Sunburns
• Skin damage
• Higher risk of skin cancer

While there’s no cure for albinism, proper management strategies can help:

• Regular eye exams and vision care
• Comprehensive skin protection
• Sunscreen with high SPF
• Protective clothing
• Limited sun exposure during peak hours

With appropriate care, people with albinism can effectively manage their condition.

Signs and Symptoms

Skin Appearance

People with albinism have varying levels of skin pigmentation. Some have very light skin compared to their family members, while others may have coloring similar to their relatives. Skin tones can range from white to brown.

Individuals with African heritage who have albinism might have light brown or reddish-brown skin with freckles.

Sun exposure can cause several skin changes in people with albinism:

• Freckles
• Moles (sometimes pink or colorless)
• Large freckle-like spots (solar lentigines)
• Sunburns with inability to tan

Some people’s skin color stays the same throughout life. Others may experience slight color changes during childhood and teenage years as melanin production increases.

Hair Coloration

Hair color in people with albinism varies widely:

Hair Color Range	Common in
Very white to brown	All populations
Yellow, red, or brown	Often in people of African or Asian descent

Hair might appear darker with age for two reasons:

1. Natural darkening by early adulthood
2. Environmental staining from minerals in water

Eyelashes and eyebrows are typically very pale.

Eye Color Changes

Eye color in people with albinism can range from very light blue to brown and may change as a person gets older. The irises (colored parts of the eyes) usually lack sufficient pigment.

This allows light to shine through, making the eyes very sensitive to brightness. In certain lighting conditions, very light-colored eyes might appear reddish because of light reflecting off the back of the eye.

Vision Difficulties

Vision problems are common in all types of albinism. These may include:

• Nystagmus: Uncontrollable, rapid eye movements.
• Unusual Head Positions: Tilting the head to reduce eye movements and see better.
• Strabismus: Eyes that can’t look in the same direction at once or appear crossed.
• Refractive Errors: Problems seeing near or far objects.
• Photophobia: Extreme light sensitivity.
• Astigmatism: Blurred vision from an irregular corneal curvature.
• Retinal Differences: Reduced vision from underdeveloped eye tissues.
• Optic Nerve Misrouting: Abnormal pathways for nerve signals from eyes to brain.
• Poor Depth Perception: Difficulty judging distances and seeing in three dimensions.
• Vision Impairment: From legal blindness to complete blindness

When to Consult a Doctor

Healthcare providers often notice signs of albinism at birth, such as lack of color in a newborn’s hair, skin, eyelashes, or eyebrows. If you see these signs in your baby, talk with your doctor.

Your child will likely need regular eye exams, and their healthcare provider will monitor changes in skin color and vision.

Seek medical attention if your child with albinism has:

• Frequent nosebleeds
• Easy bruising
• Long-lasting infections

These symptoms might indicate rare but serious hereditary conditions, including albinism.

What Causes Albinism

Albinism happens when there are changes in genes that help make melanin. Melanin is the pigment that gives color to our skin, hair, and eyes. Melanocytes are the cells that make this pigment.

When one of these genes changes, a person may have little or no melanin. The amount of melanin missing depends on which gene is affected and how it changed.

Different Types of Albinism

There are several types of albinism, each with different causes and features:

Oculocutaneous Albinism (OCA)

• Most common type of albinism
• Requires two copies of the changed gene (one from each parent)
• Involves changes in one of eight genes (OCA1 through OCA8)
• Affects skin, hair, and eyes with reduced pigment
• Causes vision problems
• Pigment levels vary by type, creating different appearances

Ocular Albinism

• Primarily affects the eyes
• Causes vision problems
• Most common form is type 1
• Passed down through the X chromosome
• Usually seen only in males
• Less common than OCA
• Typically transmitted from mothers who carry the gene change

Syndrome-Related Albinism

• Connected to rare inherited disorders
• Examples include:
  • Hermansky-Pudlak Syndrome includes albinism, bleeding issues, and lung or bowel disease.
  • Chediak-Higashi Syndrome combines albinism with immune problems, nerve issues, and bleeding disorders.

The severity of albinism symptoms depends on how much the gene change affects melanin production. Some people with albinism may have very light coloring, while others might have more pigment.

Vision problems occur in all types but may vary in severity.

Risk Factors

The risk depends on family genetics. When one or both parents carry changed genes, children may develop this condition. Each type of albinism follows its own pattern of inheritance.

Health Issues

Vision Problems

People with albinism often face vision challenges. Their eyes lack normal amounts of pigment, which affects how well they can see. Many need special glasses or contact lenses. Some use magnifying devices or large-print materials to read.

These vision issues can make everyday activities harder. Learning in school might take extra effort, and finding and keeping jobs can be more difficult. Many people with albinism cannot drive due to poor eyesight.

Skin Concerns

The skin of people with albinism is very sensitive to sunlight. They burn easily because they have little or no protective pigment. Sunburns can happen quickly, even on cloudy days.

Over time, sun damage can cause:

• Thickened, rough skin
• Premature aging
• Higher risk of skin cancer

Skin cancer may look different in people with albinism. Instead of dark moles or growths, cancerous spots might appear pink or reddish. This makes them harder to spot early.

Social and Emotional Challenges

People with albinism sometimes face social difficulties:

• Unwanted staring or questions
• Teasing or bullying
• Feeling different from family members
• Discrimination in some communities

These experiences can lead to:

• Social isolation
• Low self-esteem
• Anxiety
• Stress

Support groups and counseling can help address these challenges. Using respectful language, like “person with albinism,” is important to avoid stigma and promote inclusion.

Prevention

Families with a history of albinism can benefit from genetic counseling. A counselor can explain the specific type of albinism present in your family. They can also calculate the probability of future children having this condition.

Genetic testing options are also available. These tests can provide more information about the genes involved in albinism inheritance patterns.