Inside your eye, there is an important light-sensitive structure known as the retina. The retina contains millions of specialized cells called rods and cones. Rod cells are responsible for peripheral and night vision, while cones are responsible for color, daytime, and central vision.
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For people living with an IRD
EYES ON INHERITED RETINAL DISEASES (IRDs)
Allison, mom of children living with an IRD
What are inherited retinal diseases (IRDs)?
Inherited retinal diseases (IRDs) are a group of rare eye disorders caused by at least one gene not working as it should. This can lead to serious vision impairment or vision loss. IRDs typically get worse over time, and some can eventually lead to legal blindness.
IRDs also impact what is called functional vision—the vision you depend on to perform daily tasks—and can affect everything from work and school to your relationships and social life.
You are not alone
Based on global estimates, approximately 1 in 2000 people has an inherited retinal disease.* Each of these people is experiencing how vision loss impacts their daily life.
*Prevalence may vary by region, locality, or subpopulation.
Learn about the impact of IRDsInherited retinal diseases explained
Select a topic below to learn more about each
Genes
Genes are often called the great blueprint for life. Genes are stored in nearly every cell of your body and contain DNA, also known as deoxyribonucleic acid, which carries instructions for how you look and everything that makes you unique. As the body’s instruction manual, genes tell parts of your body, including your eyes, how to grow and function.
Gene variants
A “gene variant” is a change in one or more of the DNA sequences that make up your genes. A change means something was added, missing, or replaced in the DNA sequence.
Genetic counselor Elena breaks down what genes are and how gene variants can impact our vision.
Let’s take a closer look inside the eye:
These rods and cones work together inside your eye’s retina to gather visual information. They send these messages to the brain through the optic nerve. This process allows us to see life fully—in color, in black and white, and in shades of gray.
When your eye’s rods and/or cones aren’t working properly, your vision may not work properly.
Narrated by genetic counselor Elena, this animated video brings to life 3 ways inherited retinal diseases can occur.
It’s hard to tell one IRD from another
Different IRDs can have similar, overlapping symptoms. This can make diagnosing inherited retinal diseases challenging. Therefore, genetic testing has become the benchmark to uncover the genetic cause of your vision loss or impairment.
Each IRD is different and can have one or more of these common symptoms:
- Difficulty seeing at night
- Loss of central and peripheral vision
- Sensitivity to light
- Farsightedness
- Blind spots
- Color blindness
- Uncontrolled eye movements
For 28 years, I’ve been learning to adapt, accommodate, and basically learn how to live with my vision condition.”
— Ramya, living with an IRD
There are many different types of inherited retinal diseases. Some include:
Retinitis pigmentosa (RP)
Key facts and symptoms
While IRDs are rare, RP is one of the most common inherited retinal diseases
Variants in more than 60 genes are known to cause a form of RP that only affects the eyes
Symptoms may include:
Eyesight that gets worse over time
Difficulty seeing at night
Blind spots that progress into loss of peripheral vision
Loss of central vision over time, which makes it difficult to read, drive, or recognize faces
Age symptoms begin
Symptoms may begin in childhood or adulthood
How common is it?
Up to 1 in 4000 people*
*In the United States and Europe.
X-linked retinitis pigmentosa (XLRP)
Key facts and symptoms
X-linked retinitis pigmentosa (XLRP) is a subtype of RP and is among the most severe forms
It’s called X-linked because it can be passed down from parent to child through mutations (changes) in a gene on the X chromosome
Symptoms may include:
Eyesight that gets worse over time
Difficulty seeing at night
Blind spots that progress into loss of peripheral vision
Loss of central vision over time, which makes it difficult to read, drive, or recognize faces
Age symptoms begin
Symptoms usually begin in early childhood, with vision getting worse over time
Individuals with XLRP often reach legal blindness by their 30s or 40s
How common is it?
Approximately 5% to 15% of RP can be inherited in an X-linked pattern and can result in XLRP
XLRP typically affects more males than females and can result in severe vision impairment or loss
Usher syndrome (USH)
Stargardt disease
Cone-rod dystrophy (CRD)
Achromatopsia (ACHM)
Leber congenital amaurosis (LCA)
Choroideremia (CHM)
Bardet-Biedl syndrome (BBS)
Disclaimer: All prevalence rates are global estimates and may vary across regions.
Discover the impact of XLRP
XLRP is the most severe form of RP and can impact the functional vision you depend on every day.
See the effects of XLRP
Genetic testing may uncover new answers
Learn how testing and retesting may help you and your eye specialist make a plan to preserve your vision.
See testing benefits