Albinism: Symptoms, Diagnosis, and Support

Key Facts

• Albinism is a group of genetic conditions characterized by little or no melanin pigment in skin, hair, and eyes.
• It affects all racial and ethnic groups globally.
• In Australia, approximately 1 in 17,000 people are affected.
• Individuals with albinism usually have poor vision but no impact on general health, intelligence, or lifespan.

Types of Albinism

1. Oculocutaneous Albinism
   • Affects hair, skin, and eyes.
2. Ocular Albinism
   • Primarily affects only the eyes.
   • Skin and hair color are similar to family members.
3. Rare Syndromes
   • Includes Hermansky-Pudlak, Chediak-Higashi, and Griscelli syndromes.

Causes

• Albinism is a genetic condition passed down by both parents.
• No simple test exists to determine if a person carries the gene.

Signs and Symptoms

• Pinkish-white skin and white hair at birth.
• Light grey, blue, or hazel eyes, sometimes appearing pink.
• Poor vision, potentially improved with glasses.
• Eye conditions include:
  • Nystagmus: Involuntary eye movement.
  • Photophobia: Sensitivity to light and glare.

Diagnosis

• Often identified at birth due to appearance.
• Genetic testing can confirm diagnosis.

Living with Albinism

• Increased risk of sunburn, skin problems, and skin cancer.
• Sun protection and sunglasses are crucial.
• Visual aids may be needed (e.g., glasses, monoculars, magnifiers).
• Support for social discrimination is beneficial.

Complications

• Primarily eye-related issues.
• No impact on overall health, intelligence, or lifespan.

Resources and Support

• Albinism Fellowship of Australia: Offers support and education.
• Vision Australia: Provides information on vision difficulties.

Related Information

• Information available on genetic disorders, vision issues, and skin conditions from various Australian health services.

Sources

• Albinism Fellowship of Australia
• Vision Australia

For more detailed information, visit healthdirect.gov.au.