Our Experts

At Columbia and elsewhere, scientists are conducting ongoing research into genetic (inherited) causes of retinal diseases. Efforts are underway to determine how these diseases are passed down in families, how they develop, and how they can be managed or treated. Our physicians can use genetic testing to help diagnose several conditions, including the following:

  • Achromatopsia
  • Albinism
  • Best disease
  • Choroideremia
  • Cone rod dystrophy
  • Congenital stationary night blindness
  • Corneal dystrophy
  • Doyne honeycomb dystrophy
  • Familial exudative vitreal retinopathy
  • Glaucoma (juvenile open-angle and congenital types only)
  • Juvenile X-linked retinoschisis
  • Leber hereditary optic neuropathy (LHON)
  • Microphthalmia and Anophthalmia
  • Neurodegeneration with brain iron accumulation (NBIA)
  • Occult macular dystrophy
  • Optic atrophy, dominant
  • Pattern dystrophy
  • Retinitis pigmentosa
  • Retinal degeneration
  • Retinoblastoma
  • Early onset macular degeneration
  • Usher syndrome

Genetic testing is an important tool in determining whether a person has a genetic disease. This form of testing can have some advantages over traditional diagnostic testing, such as the ability to diagnose a condition before symptoms begin, and to identify more than one disease using a single test. The eye genetics specialists at the Department of Ophthalmology use state-of-the art genetic testing techniques. We can help you determine whether genetic testing is a good option for you.

Learn more about our specialist(s) in eye genetics: