Albinism

Nicole Bermudez/Katie Bell/Anaiyah Bryant

signs and symptoms

Symptoms may include:

  • Eye problems:
    • Strabismus or crossed or wandering eye
    • Poor vision (which usually cannot be fully corrected with glasses or contacts)
    • In some cases, functional blindness
    • Nystagmus or irregular, rapid eye movement.
    • Amblyopia or “lazy” eye.
    • Photophobia–sensitivity to bright lights or glare
  • Skin problems:
    • Little or no pigmentation (resulting in extremely light or white skin)
    • Patches of low pigmentation (resulting in patches of extremely light or white skin)
    • Extreme sensitivity to Sunburn
    • Very high susceptibility to skin cancer
  • Hair problems, including:
    • White hair
    • Parts of the hair being white
  • Rare pes of albinism, like Hermansky-Pudlak syndrome, can cause other symptoms:
    • Bleeding disorders
    • Lung disease
    • Bowel disease
    • Infections
    • Hearing Loss
    • Nervous system disorders
    • The common forms, Type 1 and 2 albinism are not associated with these more serious symptoms.

Causes

A person inherits one or more defective genes that cause them to be unable to produce the normal amounts of a pigment called melanin. Several different genes are involved in albinism, depending on the specific type.

Researchers have identified several genes that result in albinism. The genes are located on "autosomal" chromosomes. Autosomes are the chromosomes that contain genes for general body characteristics.

Genes carry the information that makes you an individual. We normally have two copies of these chromosomes and genes: one inherited from our father, the other inherited from our mother. Albinism is a "recessive trait" - a person without albinism can carry the albinism trait.

Both parents must carry a defective gene to have a child with albinism. When neither parent has albinism but both carry the defective gene, there is a one in four chance that the baby will be born with albinism.

Long and short term effects

Albinism affects production of melanin, the pigment that colours skin, hair and eyes

treatment

The goal of treatment is to relieve symptoms. Treatment depends on the disorder.

Treatment involves protecting the skin and eyes from the sun:

  • Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
  • Sunscreen should have a high sun protection factor (SPF).
  • Sunglasses (UV protected) may relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).

Other

The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair