Genetic Testing for
Inherited Retinal Diseases
New Albany & Corinth, MS
Weeden Eye Clinic 662-539-7801
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Corinth Eye Clinic 662-286-8860
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If you have a family history of vision loss or have noticed changes in your own vision, it’s important to get tested for inherited retinal diseases. At Corinth Eye Clinic and Weeden Eye Clinic, we offer comprehensive genetic testing to identify inherited retinal diseases and provide personalized treatment plans.
What are inherited retinal diseases?
Inherited retinal diseases (IRDs) are a group of rare eye conditions caused by an inherited gene mutation. They can lead to vision loss or blindness. Because they are caused by genetic mutations, these diseases often run in families. IRDs can affect both children and adults, varying in severity from mild vision impairment to total blindness.
There are many different types of inherited retinal diseases, and each one affects the retina in different ways. The retina is the thin layer of tissue at the back of the eye that converts light into electrical signals that the brain interprets as visual images.
Types of inherited retinal diseases
Here are a few examples of inherited retinal diseases:
Retinitis pigmentosa (RP)
RP is a group of inherited diseases that primarily affect the rod cells in the retina. RP often leads to progressive peripheral vision loss, night blindness, and, in some cases, central vision impairment.
Stargardt disease affects the macula, a small but important part of the retina responsible for central vision. As the disease progresses, central vision may become severely impaired, although side (peripheral) vision usually remains intact.
Leber congenital amaurosis (LCA)
LCA is a rare and early-onset inherited retinal disease. It typically presents in infancy or early childhood and is associated with severe visual impairment or blindness. Symptoms may include nystagmus (involuntary eye movements), sensitivity to light, and poor visual responses.
Usher syndrome is characterized by both hearing loss and vision loss. It is a genetically heterogeneous disorder and is further divided into subtypes based on the severity and progression of symptoms.
Cone-rod dystrophy (CRD)
CRD affects the cone and rod cells of the retina, leading to reduced central and color vision. It can cause progressive vision loss, often starting in childhood or adolescence.
Choroideremia primarily affects the choroid, a layer of blood vessels beneath the retina. It leads to progressive vision loss, night blindness, and peripheral vision loss, often beginning in adolescence.
Genetic testing in New Albany & Corinth
At Corinth Eye Clinic and Weeden Eye Clinic, we offer genetic testing for inherited retinal diseases. This testing can help detect these conditions early before symptoms even appear. By identifying the genes associated with these diseases, we can develop a customized treatment plan to help manage or prevent the disease from progressing.
The testing process includes a thorough examination of your eyes and medical history, as well as a blood or saliva sample. Our team will analyze your DNA sample to identify any mutations or abnormalities that may be causing your vision loss.
ID YOUR IRD genetic testing
While testing options for IRDs continue to expand, insurance plans rarely cover the cost of genetic testing for IRDs. Through the ID Your IRD program, a joint initiative of Spark Therapeutics and Invitae, we can offer genetic testing for approximately 300 genes associated with IRDs at no cost to eligible patients. The ID Your IRD program uses panel testing, which involves analyzing a broad range of genes linked to inherited retinal diseases.
Our eye care professionals can help determine if you are eligible for the program and provide access to this valuable no-cost genetic testing option. Contact us today in New Albany or Corinth to schedule an appointment and learn more.