Hereditary Retinal Disorders

About Hereditary Retinal Disorders  

Although inherited retinal diseases (IRDs) are usually rare, they can cause severe vision loss and even blindness. Caused by genetic mutations, IRDs can affect people of all different ages and backgrounds and are primarily degenerative and will worsen over time. Genetic testing can help identify the specific variants to enable our Columbia ophthalmologist to correctly diagnose and treat the retinal disease so we can save your vision.


To correctly treat inherited retinal disease, the correct diagnosis is crucial. Columbia ophthalmologists are experts in diagnosing IRDs, and we have at our disposal multiple examinations, assessments, and resources, including:

  • Patient and Family Medical Histories – A thorough intake of medical history to identify patterns within the family to find the genetic components.
  • Genetic Testing – By meeting with Columbia’s genetic counselors, we can perform several genetic tests to help diagnose specific IRDs. We will perform a thorough intake of medical history to identify patterns within the family to find the genetic components.
  • Complete Eye Examination – A complete and comprehensive eye examination is necessary to make an accurate diagnosis of the inherited eye disease. The examination may include:
    • Dilation, visual acuity test, slit-lamp testing, imaging, and visual field testing. 
    • Retinal photographs taken of the eye’s surface.
    • Optical Coherence Tomography (OCT) takes cross-sectional pictures of the retina to measure the thickness of the retina.
    • Fundus autofluorescence is used to form a map of the layers of the retina.
    • Infrared autofluorescence is used to examine the distribution of pigment in the retina.
    • Electroretinography measures the electrical response of the eyes’ cones and rods.

Treatments We Offer

Columbia ophthalmologists can use gene therapy and gene surgery treatments by delivering the normal gene to the retina, which will stop the disease from advancing. Columbia researchers are constantly working to make discoveries to improve genetic therapy treatments. In addition, there are several active clinical trials that qualified patients may participate in. The retinal prosthetic can also sometimes be used to restore vision for patients with certain IRDs by using a microchip that converts images collected by a camera and is sent wirelessly to the brain.

Why Choose Columbia?

Columbia ophthalmologists offer a team approach to the treatment of IRDs and the care of our patients. Inherited Retinal Diseases can be complicated and have various impacts on the lives of our patients and their families. Our Columbia ophthalmology team will find the best treatment approach for you and your family. From retinal specialists to genetic counselors, from vision scientists to visual rehabilitation specialist, Columbia ophthalmologists can address all the needs of the patients with IRD and offer various resources to ensure opportunities these patients may  have the best quality of life possible. Our world renowned vision scientists use innovative gene malfunction therapies that are currently in development to correct the genes to treat our patients in the most advanced way possible with high levels of success by using retinal stem call technologies and gene treatments to reconstruct macular anatomy in inherited disorders.