Eyes can be missing, deformed, or incompletely developed at birth.
Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." (See also Introduction to Birth Defects of the Face and Skull.)
Birth defects of the eye include the following:
Hypertelorism: Widely spaced eyes, can occur in many 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 1 or both eyes
Microphthalmia: A small eyeball (may affect 1 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 medications, illicit drugs, or alcohol while pregnant or an infection she may have had while pregnant.
A child who has a birth defect of the eye often has other birth defects, particularly of the face or brain.
This person has hypertelorism (widely spaced eyes; left) and also 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 (the left eye is more severely affected than the 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
This person has hypertelorism (widely spaced eyes; left) and also 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 (the left eye is more severely affected than the 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
Diagnosis of Eye Defects
Before birth, ultrasound imaging studies of the fetus and sometimes a blood test
After birth, physical examination of the newborn
Genetic testing
Before birth, doctors may be able to identify some eye defects during an ultrasound and sometimes by doing amniocentesis or chorionic villus sampling to obtain a sample of DNA from the fetus to do genetic testing.
After birth, doctors can identify many eye defects during a physical examination.
Because abnormal genes may be involved in the formation of birth defects of the eye, affected babies should be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to children). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes. If there is a genetic disorder, families may benefit from genetic counseling.
Treatment of Eye Defects
Surgery
Children who have one of these conditions should be evaluated by a pediatric ophthalmologist. A pediatric ophthalmologist is a doctor who specializes in eye problems in children. Birth defects of the eye are treated surgically using various surgical techniques.
