Understanding Inherited Retinal Diseases

Submitted by Elman Retina Group on March 14, 2021

Just as our parents pass down physical traits like eye color, height and certain facial expressions, in rare cases they may also pass down diseases that threaten visual clarity and quality. Often, patients with inherited retinal diseases are quite symptomatic with poor vision, but sometimes the disease progresses in the retina in asymptomatic patients. These patients do not notice any vision problems until it’s too late in the disease process.

According to the team at Elman Retina Group, an inherited retinal disease is caused by variations in the genes that contribute to normal retinal function. We may inherit these abnormalities from one or both parents (sometimes they occur spontaneously). More than 260 types of genes are believed to cause inherited retinal diseases, with more discovered every year. The diseases are usually degenerative and can cause severe vision loss and blindness.

Common Inherited Retinal Diseases

The most common inherited retinal diseases include the following:

• Retinitis pigmentosa: variations in 60 genes affecting the retina cause the light-sensing cells of the retina to gradually die off. Retinitis pigmentosa may initially appear during childhood or adulthood. The first symptom is usually loss of night vision or simply not seeing well in a dimly lit room; later, blind spots can occur in peripheral (side) vision. As the blind spots progress, central vision may become affected.
• Leber congenital amaurosis: improperly functioning light-gathering cells in the retina cause severe visual impairment or blindness at birth. Other symptoms include sensitivity to light, extreme farsightedness, crossed eyes and involuntary movements of the eye.
• Choroideremia: genetic abnormalities cause the loss of cells in both the retina and the choroid, or the layer of blood vessels that nourishes the retina. Slowly tunnel vision can develop, followed by the loss of detail vision. The disease can eventually cause total loss of vision.
• Stargardt disease: characterized by damage to the macula, or the central portion of the retina, which causes problems with straight-ahead vision. The disease may first be detected during childhood, adolescence or adulthood.

Diagnosing and Treating Inherited Retinal Diseases

With extensive knowledge of inherited retinal diseases, our doctors at Elman Retina Group are well-qualified to diagnose these problems. Our first objective is to determine the specific diagnosis by taking down a complete patient and family eye health history and performing an extensive clinical dilated eye examination. We may conduct further advanced testing and take a series of retinal images to help us make the proper diagnosis. We also believe that it is important to try and identify the underlying gene mutation as genetic therapies are on the horizon for these previously hopeless diseases, and knowing the genetic cause is important for family planning purposes. We offer free genetic testing on-site in our clinics that test for over 250 genes.

Although the majority of inherited retinal diseases do not have treatments or cures, we can help slow down the progression of the disease and prevent or delay additional vision loss. We can also discuss the possibility of participating in clinical trials utilizing gene therapy. Our doctors are excited about many clinical trials showing promising results, and we can help you determine whether you may be a good fit for a trial.

For more information about inherited retinal diseases or to schedule an evaluation with our knowledgeable doctors, please give us a call or email us today.