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Eye Defects

By Simeon A. Boyadjiev Boyd, MD, Professor of Pediatrics and Genetics, Section of Genetics, Department of Genetics, University of California, Davis

Eyes can be missing, deformed, or incompletely developed at birth.

Eye defects include the following:

  • Hypertelorism: Widely spaced eyes, can occur in several congenital syndromes (a group of defects present at birth that occur together)

  • Hypotelorism: Closely spaced eyes

  • Coloboma: A missing piece of tissue in any part of the eye, such as the eyelid, iris, retina, or optic nerve of one or both eyes

  • Microphthalmia: A small eyeball (may affect one or both eyes)

  • Anophthalmia: Complete absence of the eyeball (can occur in more than 50 congenital syndromes)

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