The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Cystoid macular degeneration | Very frequent (present in 80%-99% of cases) |
| Metamorphopsia | Very frequent (present in 80%-99% of cases) |
| Visual impairment | Very frequent (present in 80%-99% of cases) |
| Abnormality of color vision | Frequent (present in 30%-79% of cases) |
| Choroideremia | Occasional (present in 5%-29% of cases) |
| Visual field defect | Occasional (present in 5%-29% of cases) |
| Abnormal electroretinogram | - |
| - | |
| Macular dystrophy | - |
| Reduced visual acuity | - |
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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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
Can you provide updated information about Best vitelliform macular dystrophy? Are there support organizations or chat rooms that I can visit to connect with others with this diagnosis? See answer
