Congenital Developmental Anomalies Affecting the Eye and Orbit
In the human embryo, the eyes are formed by a delicate and complex process. Problems in this process can lead to congenital (present at birth) eye malformations. These conditions are relatively rare, occurring in approximately five per 10,000 live births. Children with these problems need the kind of specialized experience found among the pediatric ophthalmologists at Children’s National Medical Center. Patients are regularly seen at Children’s National for these conditions.
Children’s has a special Ophthalmic Genetics Clinic, headed by Brian P. Brooks, MD, PhD, one of the few physicians nationwide who is board certified both as a pediatric ophthalmologist and a clinical geneticist. Dr. Brooks conducts an active scientific research program on inherited eye diseases at the National Eye Institute, a division of the National Institutes of Health.
What are congenital/developmental anomalies affecting the eye and orbit?
The human eye forms through a complex program during embryonic development. Problems in this developmental process can lead to congenital eye malformations, such as anophthalmia (no eye), microphthalmia (small eye), coloboma (failure of the optic fissure to close), aniridia (absent or partial iris), and optic nerve hypoplasia (underdeveloped optic nerve).