Birth defects of the eye 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)
Some of these birth defects may be caused by mutations in certain genes. Others may be caused by the mother's use of certain drugs or alcohol while pregnant or an infection she may have had while pregnant.
Before birth, doctors may be able to identify some eye defects during an ultrasound Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more and sometimes by taking a sample of blood to do genetic testing.
After birth, doctors can identify many eye defects during a physical examination.
This person has hypertelorism (widely spaced eyes; left) and maxillary hypoplasia (small upper jaw; right).
© Springer Science+Business Media
This photo shows a person who has a coloboma in both eyes with enlarged pupils extending to the lower edge of the iris of each eye.
DR P. MARAZZI/SCIENCE PHOTO LIBRARY
This photo shows a person who has microphthalmia of both eyes (left greater than right).
© Springer Science+Business Media
This photo shows a person who has multiple birth defects on the right including a missing eyeball (anophthalmia), a deformed external ear (pinna), and a smaller right side of the face.
© Springer Science+Business Media
(See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Birth defects of the face and limbs are fairly common. They may involve only a specific body part, such as the mouth (cleft lip or cleft palate) or foot (clubfoot). Or they may be part of a... read more .)
