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Glossary for Oculocutaneous albinism

  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Hair symptoms: Symptoms affecting the hair
  • Head Conditions: Conditions that affect the head
  • Melanoma: Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color.
  • Nystagmus: Involuntary jerky eye movements
  • Photophobia: An exaggerated or irrational fear of light.
  • Rufous oculocutaneous albinism: A rare inherited disorder characterized by abnormal pigmentation balance in the skin, eyes and hair (due to a genetic mutation of the MC1R gene). Tyrosinase, which is needed for the production of melanin which gives the skin, hair and eyes their color, is present but but a pigmentation imbalance causes a distinctive reddish coloration to the skin and hair.
  • Skin conditions: Any condition that affects the skin

 

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