Ophthalmic Genetics Program
Children’s National Health System offers a clinic devoted specifically to children and adults with inherited eye disease and their families on the fourth Wednesday of every month.
The Ophthalmic Genetics team works closely with Children's Divisions of Ophthalmology, Genetics, and Neurology to meet the special needs of patients and their families with inherited eye conditions. Genetic counseling is among the services offered by this multidisciplinary team.
The Children's Ophthalmic Genetics Program is led by Brian P. Brooks, MD, PhD, one of only a handful of physicians nationwide who are board-certified by both the American Board of Medical Genetics and the American Board of Ophthalmology. Dr. Brooks conducts an active scientific research program on inherited eye diseases at the National Eye Institute, National Institutes of Health. His ongoing research centers on the genetics of congenital eye malformations, especially coloboma. He also has research programs in inherited disorders of vitamin B12 metabolism, gangliosidoses (e.g., Tay Sachs and Sandhoff), Bardet-Biedl syndrome, and DNA repair disorders (e.g., xeroderma pigmentosum and trichothiodystrophy).
Conditions seen in the Ophthalmic Genetics Clinic include:
- congenital eye malformations (coloboma, microphthalmia, aniridia)
- chromosomal abnormalities
- metabolic abnormalities (Tay Sachs or Hurler syndrome),
- genetic syndromes
- retinal degenerations (Leber congenital amaurosis)
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