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 Hospital. Patients are regularly seen at Children's National for these conditions.
Children's National has a special Ophthalmic Genetics Clinic, headed by Brian P. Brooks, M.D., Ph.D., 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.All members of the Pediatric Ophthalmology Team help assess, refer and manage cases of congenital/developmental eye anomalies.
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.
All members of the Pediatric Ophthalmology Team help assess, refer and manage cases of congenital/developmental eye anomalies. Members of the Pediatric Oculoplastics Team evaluate and surgically treat malformations such as lid deformities, lid coloboma (absence of the lids), ptosis (drooping of the lids) and small orbits due to extremely small or "absent" eyeballs.
Our specialized pediatric ophthalmologists are experts at recognizing and treating complex eye conditions in infants and children.
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