Are Retinal Diseases Inherited?
Hereditary diseases are influenced by genetic factors and can be passed down from parents to their children through genes. Just as physical traits like eye color or facial features can be inherited, so too can the risk for certain diseases. When you notice that a son has his mother’s eyes or a daughter has her grandfather’s nose, it’s a clear sign of genetic inheritance at work. However, not all inherited traits are beneficial—some can predispose individuals to certain health conditions, including eye diseases. If you’re coming into Retina Consultants of Nevada for your annual comprehensive eye exam, which includes a review of your family and medical history, you might wonder, “Are retinal diseases hereditary?”
The retina, located at the back of the eye, is a light-sensitive layer essential for vision. It converts light into nerve impulses that are sent to the brain to create visual images. The health of your retina is crucial for clear vision, and research has shown that retinal health is often linked to family history. Globally, over 2 million people suffer from hereditary retinal diseases, with more than 270 genes identified as contributors to these conditions. These inherited retinal diseases, also known as retinal dystrophies, damage the rods and cones in the retina—cells critical for vision. Rods help with seeing in low light, while cones provide high-resolution central and color vision.
Common types of hereditary retinal diseases include retinitis pigmentosa, choroideremia, achromatopsia, Stargardt disease, cone-rod dystrophy and Leber congenital amaurosis. These conditions can lead to significant vision loss or even blindness. Each type of hereditary retinal disease occurs because at least one gene is malfunctioning. Although these diseases are rare, they are typically degenerative, meaning they worsen over time.
The inheritance of retinal diseases can occur in several ways, depending on the type of genetic mutation involved. Here’s a deeper insight into how these diseases are passed down:
- Autosomal Dominant Inheritance: In this type of inheritance, only one copy of the mutated gene is needed to cause the disease. If a parent has an autosomal dominant retinal disease, there is a 50% chance that their child will inherit the condition.
- Autosomal Recessive Inheritance: In these cases, two copies of the mutated gene—one from each parent—are required for the disease to manifest. Parents who each carry one copy of the mutated gene typically do not show symptoms of the disease but have a 25% chance of having a child with the condition.
- X-Linked Inheritance: This pattern occurs when the mutated gene is located on the X chromosome. Males are more likely to be affected by X-linked retinal diseases because they have only one X chromosome. Females, with two X chromosomes, are often carriers and may or may not show symptoms.
- Mitochondrial Inheritance: Some retinal diseases are linked to mutations in mitochondrial DNA, which is inherited exclusively from the mother. Diseases linked to mitochondrial DNA can affect multiple family members, but the pattern of inheritance may vary.
Clinical eye examinations are essential for diagnosing and monitoring retinal diseases, especially those with a hereditary component. Gene therapy is a promising field currently under development to treat various inherited retinal diseases. Your ophthalmologist can perform a series of retinal imaging tests to detect any changes or damage to the retina. At Retina Consultants of Nevada, we are dedicated to safeguarding your eye health. To schedule your exam, call 702-369-0200 or submit a request form online at WEBSITE.