Best disease, known for its impact on central vision, affects many individuals. At Specialty Vision, find top retina specialists dedicated to managing your vision and enhancing your quality of life.
This page provides a comprehensive overview of Best disease, covering its definition, progression, symptoms, genetic causes, diagnostic testing, management strategies, and lifestyle adjustments. It is designed to help you understand the condition and work with our retina specialists to maintain the best possible vision.
Best disease, also called vitelliform macular dystrophy, is a genetic condition that affects the macula—the part of your retina responsible for sharp central vision. It makes it harder to see details, like faces or text, while side vision usually stays normal.
The condition is passed down in an autosomal dominant way, which means one parent with the gene can pass it to their child. The prevalence of Best disease is estimated at 1 in 16,500 to 1 in 21,000 people. While rare, it can seriously affect vision for those who have it.
Best disease has been observed to progress through different stages, each corresponding to changes in the appearance and health of the retina. These stages help guide our understanding and monitoring of the condition.
At this early stage, the retina looks normal during an eye exam. There are usually no symptoms, and standard vision tests might not detect any issues. However, an electro-oculogram (EOG)—a test that measures the eye’s electrical response to light—can reveal abnormal results. This stage is often identified in people with a family history of Best disease.
This stage is defined by the appearance of a round, yellow lesion under the macula, resembling an egg yolk. It's made of lipofuscin, a fatty pigment that accumulates in retinal cells. Many people still have normal or near-normal vision at this point. The lesion can stay stable for years without affecting sight.
The lesion begins to break down and the yellow material shifts within the retina, layering in a way that looks like fluid or pus settling at the bottom of the lesion. This change is visible on retinal scans, even if vision hasn't yet worsened. Some people may start noticing mild distortion or blurriness.
The yellow material continues to break apart and scatter. This process damages the retinal cells responsible for central vision. People may begin to notice blurred or distorted sight (metamorphopsia), and colors might appear less vivid. Reading or focusing on small details can become harder.
By this point, most of the yellow material has been reabsorbed, but the retina is left thinner and scarred. Vision loss becomes more noticeable and may be permanent. People often struggle with tasks that require fine visual detail, such as reading, recognizing faces, or driving.
In about 20% of patients, abnormal blood vessels grow beneath the retina. These vessels are fragile and can leak blood or fluid, which leads to sudden vision changes or further damage. CNV can be treated with anti-VEGF injections, which slow or stop the growth of these vessels and help stabilize vision.
Best disease is a genetic eye condition caused by mutations in the BEST1 gene (also known as VMD2). This gene is responsible for making a protein called bestrophin-1, which plays a key role in the health and function of the retinal pigment epithelium (RPE)—a layer of cells that supports the retina.
When this gene doesn’t work properly, waste materials like lipofuscin—a yellow pigment—build up under the retina, especially in the macula, the part responsible for sharp central vision. Over time, this buildup can damage retinal cells and lead to vision problems.
Best disease follows an autosomal dominant inheritance pattern, which means:
Some people with the gene mutation may never develop noticeable symptoms, while others experience early or progressive vision changes. Environmental factors do not cause Best disease—it's entirely genetic.
Whether or not you can drive with Best disease depends on the stage of the condition and how much your central vision is affected. Best disease primarily impacts the macula, the part of the retina responsible for sharp, detailed central vision—crucial for activities like reading road signs, recognizing traffic signals, and judging distances.
In the early stages, many people retain good enough vision to meet legal driving standards, especially if both eyes are not equally affected. However, as the disease progresses and central vision declines, you may find it increasingly difficult to see clearly, even though your peripheral (side) vision usually remains intact.
Here are a few important considerations:
Your eye care provider can assess your visual acuity and field of vision to determine whether you meet the legal requirements for driving in your area.
In some cases, people with reduced central vision may still be able to drive using bioptic telescopic lenses or other assistive devices. A low vision specialist can help assess if this is an option for you.
If you experience significant vision loss, especially in both eyes, it may no longer be safe to drive. It’s important to be honest with yourself and your eye doctor about how well you can see—especially in low-light conditions or unfamiliar areas.
Best disease is often picked up during a routine eye exam—even before any symptoms appear. When symptoms do develop, they mostly affect your central vision, which is key for reading, recognizing faces, and seeing fine detail.
You might notice that things in the center of your view look less sharp or slightly hazy. This can make reading, using a phone, or driving more difficult.
Straight lines may start to look bent, wavy, or warped. This happens when the macula—the central part of the retina—is disrupted by the disease.
One eye may be more affected than the other. This imbalance can make tasks like depth perception or focusing on details feel off.
In later stages, the damage to the macula can cause serious loss of central vision. While side (peripheral) vision usually stays intact, the loss of central vision can interfere with daily life.
As Best disease progresses, central vision can become blurry or distorted—especially in later stages. A low vision specialist helps you adapt to these changes and continue daily activities with greater ease and independence.
Here’s how they support you:
Low vision specialists recommend tools based on your needs. These might include:
These tools make it easier to read, write, cook, manage finances, or navigate your environment.
They’ll help improve lighting in your home and suggest high-contrast strategies to reduce eye strain and boost clarity when vision is limited.
You’ll learn techniques to use your remaining vision more efficiently—like relying more on peripheral vision, using tactile cues, or organizing spaces for easier access.
A specialist also helps you adjust emotionally and connects you to rehab programs, support groups, and local services that keep you moving forward.
There’s no cure for Best disease, but there are ways to manage it and protect your vision for as long as possible. How it’s managed depends on the stage of the disease and your specific symptoms.
Early detection is critical. Even if you’re not noticing symptoms, routine exams—especially with retinal imaging—help track any changes in the macula over time. Your eye care provider may recommend annual or more frequent check-ups depending on your case.
Take control of your vision health today by scheduling a consultation with one of the top retina specialists listed with Specialty Vision. Our experienced doctors understand Best disease and can provide personalized care to help you navigate this condition and maintain your quality of life.
If you have a confirmed diagnosis, genetic testing can identify at-risk family members, even before symptoms appear. A genetic counselor can help you understand the results and guide family planning decisions.
Glasses or contact lenses won’t stop the disease, but they can sharpen your vision if you also have refractive errors like farsightedness or astigmatism. This can make reading, driving, and screen use easier in earlier stages.
Some patients with Best disease also develop cataracts. Cataract surgery, when needed, can help improve overall vision clarity. This won’t reverse retinal damage but may enhance what vision remains.
In advanced stages, abnormal blood vessel growth under the retina (CNV) can cause sudden vision loss. These treatments help limit the damage:
If your central vision becomes severely impaired, low vision tools can help you stay independent. These include:
Because Best disease is usually identified in childhood or early adulthood, eye care professionals often begin monitoring at a young age. Our retina specialists generally start with a thorough medical history and a comprehensive exam. Given that the disease may not present with obvious symptoms in its early stages, specialized tests are critical in confirming the diagnosis.
The following imaging and diagnostic tests are commonly used to assess Best disease:
This test involves the injection of a dye into your bloodstream, which then passes through the blood vessels in your eye. This imaging technique highlights the blood vessels and reveals any abnormal leakage or changes in blood flow.
OCT uses light waves to capture detailed cross-sectional images of your retina. It helps our retina specialists visualize the thickness and structural changes, particularly in the macular area.
This technique captures detailed images of your retina, highlighting both the blood vessels and any pigmentation changes that could signal the presence of Best disease.
This series of tests measures the electrical responses generated by your retina when it is stimulated by light. It provides insight into how well the retinal cells are functioning, which is particularly useful in the early stages of Best disease.
Genetic tests can be conducted to identify the mutated gene responsible for Best disease. This testing is not just useful for diagnosis—it can also inform family planning decisions and genetic counseling for those concerned about passing the condition on.
It is natural to have questions when faced with a diagnosis like Best disease. Here are some common areas of inquiry that might help clarify what you’re experiencing and what can be expected going forward:
Unlike conditions such as Stargardt disease, which also affects the macula, Best disease is specifically linked to an autosomal dominant mutation in a gene related to retinal health. While both disorders can impact the central vision, the pattern of retinal changes and the formation of characteristic lesions differ between them.
Best disease does not result in total blindness. While the loss of central vision can be severe, your peripheral vision generally remains intact. The focus of treatment and management is to preserve as much visual function as possible and to slow the progression of the disease.
Because Best disease is inherited, there is no known way to prevent it from developing if you have the genetic predisposition. However, early diagnosis and consistent management can help in mitigating the severity of vision loss over time.
Researchers are actively studying gene therapy and other emerging treatments to possibly intervene in the progression of Best disease. Although these treatments are still in experimental stages, they offer hope for the future. Stay engaged with our retina specialists to hear about new developments as they become available.
Take control of your vision health today by scheduling a consultation with one of the top retina specialists listed with Specialty Vision. Our experienced doctors understand Best disease and can provide personalized care to help you navigate this condition and maintain your quality of life.
Learn about Best disease, its symptoms, and management options from top retina specialists listed with Specialty Vision.
