The Role Genetics and Family History Play In the Development of Retinal Diseases

If you’ve ever heard someone tell you that you have your parent’s eye color, then you’ve already seen first hand how your family history influences your eyes. While you may love knowing that your eyes reflect your grandparent’s beautiful hue, there are some times when genetics can lead to concerns with your vision. Exploring the role that genetics plays in the development of retinal diseases gives you insight into topics that you’ll want to cover with your eye doctor.

What Are Common Hereditary Retinal Diseases?

The top retina specialists in NY see a variety of hereditary eye conditions. While some are related to complications from health conditions that impact other parts of your body, such as diabetes, others are directly eye-related. Inherited retinal diseases involve at least one gene not working as it should to give you proper vision.

Retinitis pigmentosa is a term that eye doctors use to describe a group of related eye conditions that often begin with a loss of night vision. You’ll also want to let your ophthalmologist know if anyone in your family has any of these other inherited eye diseases.

  • Leber Congenital Amaurosis
  • Choroideremia
  • Stargardt Disease
  • Cone-rod Dystrophy

What Are Signs That You May Have an Inherited Retinal Disease?

Inherited retinal diseases are fortunately rare and each type follows its own course. For many people, the vision loss will be mild. Others, however, may face severe vision loss that impacts their daily lives. The symptoms of genetic eye conditions can begin as early as infancy. Keeping an eye out for these symptoms lets you know when to see a retinal disease specialist in Brooklyn right away.

  • Intense sensitivity to light
  • Challenges with seeing in low-light conditions
  • Unsteady eye movements (shaky or roaming eyes)
  • Vision problems that don’t respond to corrective lenses

Is Genetic Testing Available?

Genetic testing is often used as part of the diagnostic process for determining if someone has an inherited retinal disease. Usually, this type of testing occurs after an eye doctor conducts other retinal tests and refers you for genetic counseling. Working with an eye doctor that uses state-of-the-art equipment is critical for ensuring that proper testing is done to provide you with an accurate diagnosis.

After a discussion of your family history and general eye exam, your vision specialist may also recommend doing further testing in their office. Imaging tests provide a view of the structure of your eye that can assist doctors with making a diagnosis.

How Does Treatment Work for Genetic Eye Conditions

Retinal gene therapy is a breakthrough form of treatment for some inherited retinal diseases. Many people with these eye conditions join clinical trials that allow them to work along with their eye doctor and researchers to find treatments that are the most effective for them and other people with related eye disorders. While there still isn’t a cure or definitive treatment for genetic retinal conditions, your eye doctor can also provide you with prescription lenses and other forms of care that can help manage your vision loss.

Knowing your family history is important for being aware of how genetics could influence you or your child’s ability to see well into the future. If you know that a family member has an inherited retinal disease, then make sure to let us know during your exam. Early identification and care for these types of retinal conditions can help to preserve your vision for as long as possible, and a diagnosis helps you ensure that other family members get the care they need.