This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Cystoid macular degeneration | 0008028 | |
| Metamorphopsia | 0012508 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 30%-79% of people have these symptoms | ||
| Abnormality of color vision |
Abnormal color vision
|
0000551 |
| 5%-29% of people have these symptoms | ||
| Choroideremia | 0001139 | |
| Visual field defect |
Partial loss of field of vision
|
0001123 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal electroretinogram | 0000512 | |
| 0000006 | ||
| Macular dystrophy | 0007754 | |
| Reduced visual acuity | 0007663 | |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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Conditions with similar signs and symptoms from Orphanet
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Differential diagnosis of BVMD includes adult-onset foveomacular vitelliform dystrophy, age-related macular degeneration, autosomal recessive bestrophinopathy, autosomal dominant vitreoretinochoroidopathy, retinitis pigmentosa (see these terms) and Bull's-eye maculopathy.
Visit the
Orphanet disease page
for more information.
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I'm a 29 yr old male. I made an appointment with a retina specialist because lines appear to look wavy. My doctor said it looks like Best disease but he is not 100% sure. Can it be something else? Is their another illness that's similar to Best? See answer
My girlfriend has Best vitelliform macular dystrophy and I feel helpless because she tells me there is nothing anyone could do. Are there any clinical trials or research studies for this type of disease? Is there any treatment that can help? Also, can you go completely blind from this condition? See answer
My friend has Best disease in his right eye. His vision in this eye is quite stable, although he sees a black spot wherever he focuses. Will his vision remain the same or it can it deteriorate? Is there any way to improve his vision? What are the chances of his left eye also developing Best disease? See answer
