Pediatric 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).

Symptoms include an abnormal-looking eye and reduced eye vision.

The problems are usually apparent in an eye examination. A patient may occasionally require further systemic tests, such as an MRI, CT scan or ultrasounds.

Treatment focuses on maximizing visual potential with glasses and patching. Patients are treated by our ophthalmic surgeons, as necessary, for treatment of glaucoma, cataracts or other associated anomalies. Genetic counseling and information access is also provided. At Children's National Hospital, treatment is almost entirely outpatient. The frequency of treatment can vary from once every month to once a year.

After initial treatment, families can expect to have a broader understanding of the eye disease, its possible genetic background and possible related conditions. Parents will be made aware of the visual potential of the child, the possible need for special educational placement and the long-term prognosis and/or progression of the disease. In some cases low vision aids may be necessary or helpful.