Anophthalmia (an·oph·thal·mia) is when a child is born without one or both eyes. This is a birth defect that can result in blindness or limited vision.
Overview
What is anophthalmia?
Anophthalmia is a rare congenital (present at birth) condition that is marked by a child being born without one or both eyes — nothing will be present in the eye socket.
A child with this condition may have other birth defects and health conditions as well, including:
Abnormal connection between the esophagus and trachea (tracheoesophageal fistula)
Blocked esophagus (esophageal atresia)
Brain abnormalities
Delayed development of motor skills, including walking
Learning disabilities
Male genital abnormalities, such as undescended testes or micropenis (very small penis)
Slow growth
Causes
What are the causes of anophthalmia?
Anophthalmia occurs during fetal development inside the mother’s womb, when one or both eyes do not properly form. This abnormality is typically due to a genetic mutation or abnormal chromosomes.