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Genetic Disorder

Published on Nov 18, 2015

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PRESENTATION OUTLINE

HETEROCHROMIA

BY RAMON ONTIVEROS

PHENOTYPICAL DISCRIPTION

  • Abnormal color in one or both eyes
  • Sectoral is on one section of the eye
  • Central is abnormal color around the pupil
  • Full heterochromia is one eye is a complete different color

CAUSES OF HETEROCHROMIA

  • Bleeding hemorrhage
  • Waardenburg syndrome
  • Neurofibromatosis or tumor
  • Glaucoma and some medicines used to treat
  • Physical injury and Inflammation affecting the eye

CONGENITAL HETEROCHROMIA

  • Heterochromia that is congenital is inherited as an autosomal dominant trait.
  • Heterochromia is passed from mom or dad and or both

HETEROCHROMIA IN ANIMALS

  • Heterochromia appears in animals due to inbreeding
  • Cats, dogs, wolves
  • Big cats, monkeys
  • Horses and owls
  • And many others can have heterchromia

LOCATION OF HETEROCHROMIA

  • EYCL3, chromosome 15, codes brown/blue eye color (BEY)
  • EYCL1, chromosome 19, codes green/blue eye color (GEY)
  • PAX3 gene, Waardenburg syndrome

HOW MANY PEOPLE HAVE IT

  • 11 people per 1000 people have it in America
  • Simon Pegg, Mila Kulis, Keifer Sutherland, Dan Akroyd
  • Christopher Walken, Josh Henderson, Jayne Seymour
  • Kate Bosworth dancer Michael Flatley
  • dancer Michael Flatley

TREATMENT OR CURE

  • Contacts
  • Laser eye surgery

ENVIRONMENTAL LINK

  • Bleeding hemorrhage
  • some medicines used to treat glaucoma
  • Physical injury and Inflammation affecting the eye

WORKS CITED

  • Kelly, Evelyn B. Encyclopedia of Human Genetics and Disease. Vol. 1. Santa Barbera, CA : Greenwood, 2013.
  • Clayman, Charles B.,ed. The American Medical Association Encyclopedia of Medicine. New York: Random House, 1989.