National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Adult-onset vitelliform macular dystrophy


Other Names:
AVMD; Macular dystrophy, vitelliform, adult-onset; Vitelliform macular dystrophy, adult-onset; AVMD; Macular dystrophy, vitelliform, adult-onset; Vitelliform macular dystrophy, adult-onset; Foveomacular dystrophy, adult-onset; AOFMD; Foveomacular dystrophy, adult-onset, with choroidal neovascularization; Adult-onset foveomacular vitelliform dystrophy See More
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Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells.[1] AVMD usually begins after age 40. Some people remain without symptoms throughout their life. Other people with AVMD may slowly develop blurred and/or distorted vision, that can progress to central vision loss over time.[1][2] In the past, AVMD was believed to be mainly a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that the genetic cause for most cases of AVMD has not been found.[2][3] Sometimes AVMD clearly runs in families in an autosomal dominant manner, but the inheritance is suspected to be more complicated in the majority of cases. [1][2]
Last updated: 3/8/2016
Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, mild blurring or mildly distorted vision may be present. In most cases, the cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss. The condition is usually affects both eyes.[2][3] It usually does not affect peripheral vision or the ability to see at night.[1]

Studies have revealed much variability in the signs, symptoms and progression of this condition. Some people with AVMD do not have any visual symptoms throughout their life. Others may experience ongoing visual loss, but for most people the vision loss is not severe. In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible.[2][3]
Last updated: 3/8/2016

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.

Showing of 14 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Vitelliform-like macular lesions 0007677
30%-79% of people have these symptoms
Choroideremia 0001139
Color vision defect
Abnormal color vision
Abnormality of color vision
[ more ] 		0000551
Iris hypopigmentation
Light eye color
0007730
Visual field defect
Partial loss of field of vision
0001123
5%-29% of people have these symptoms
Retinal nonattachment 0007899
1%-4% of people have these symptoms
Choroidal neovascularization 0011506
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Drusen 0011510
Macular atrophy 0007401
Macular dystrophy 0007754
Metamorphopsia 0012508
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Reduced visual acuity
Decreased clarity of vision
0007663
Showing of 14 |
Last updated: 7/1/2020
Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial).  More studies are needed to better define other underlying causes that might be present, whether of genetic or environmental origin.[2][3] 

Currently known genetic causes include mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes. It is additionally suspected that AVMD might be associated with a single-nucleotide polymorphism (variant DNA sequence) in the HTRA1 gene. Single-nucleotide polymorphisms in the HTRA1 gene are additionally associated with age-related macular degeneration.[2][3]
Last updated: 3/8/2016
The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from a new (de novo) mutation in the gene. These cases occur in people with no history of the disorder in their family. When caused by a known mutation inherited in an autosomal dominant manner, a person with adult-onset macular dystrophy (AVMD) has a 50% chance with each pregnancy of passing along the altered gene to his or her child. 

The inheritance pattern of AVMD can be confusing as not all individuals with AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.[1]
Last updated: 3/8/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
There is no cure or known treatment to stop the progression of adult-onset vitelliform macular dystrophy.[2] Management usually includes a comprehensive eye examination once or twice a year to monitor progression of the disease and for complications such as choroidal neovascularization (CNV).[4] 

CNV is sometimes associated with adult-onset vitelliform macular dystrophy because macular degeneration can damage the retinal layers. When this happens, the vascular layer of the eye between the sclera and the retina known as the choroid may produce new blood vessels (neovascularization) which grow up through the damaged layers and leak or bleed into the retina. This can cause vision loss on its own. If CNV does develop, anti-VEGF therapy such as Ranibizumab or Bevacizumab can control and even reverse the CNV. However anti-VEGF therapy does not stop or reverse the vision loss caused by adult-onset vitelliform macular dystrophy, only the extra vision loss that is due to also developing CNV.[2] 

Although vision loss is usually slow, when vision is impaired significantly, people with adult-onset vitelliform macular dystrophy may be referred for low vision testing and rehabilitation. Low vision rehabilitation can help maintain and optimize reading ability and improve overall quality of life.[4][5]
Last updated: 9/7/2017

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.

Healthcare Resources

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.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis of AOFVD includes Best vitelliform macular dystrophy, Stargardt disease, central areolar choroidal dystrophy, central serous retinopathy (CSR), pigmented epithelial detachment (PED), basal laminar drusen, acute exudative polymorphous vitelliform maculopathy (AEPVM) (see these terms) and occult CNV secondary to AMD.
Visit the Orphanet disease page for more information.

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.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

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.

Organizations Supporting this 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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Adult-onset vitelliform macular dystrophy. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Adult-onset vitelliform macular dystrophy. Click on the link to view a sample search on this topic.

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 was diagnosed with AFVD. Is there any type of treatment for this rare disorder? See answer

  • I have been diagnosed with vitelliform macular dystrophy. Is vision loss inevitable, and if so, in what sort of time frame? I am 69. See answer

  • How rare is adult-onset vitelliform macular dystrophy? See answer


  1. Vitelliform macular dystrophy. Genetics Home Reference. December 2013; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy.
  2. Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Progress in Retinal and Eye Research. February 2015; 47:64-85. http://www.ncbi.nlm.nih.gov/pubmed/25681578.
  3. Tiosano L, Grunin M, Hagbi-Levi S, Banin E, Averbukh E, Chowers I. Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. British Journal of Opthalmology. November, 2016; 100(11):1476-1481. http://www.ncbi.nlm.nih.gov/pubmed/26802173.
  4. Chan, S and Macdonald I. Adult-onset foveomacular vitelliform dystrophy. Orphanet. December 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99000.
  5. Grenga PL, Fragiotta S, Cutini A, Meduri A, Vingolo EM. Microperimetric evaluation in patients with adult-onset foveomacular vitelliform dystrophy. Indian Journal of Ophthalmology. 2017;65(5):. May 2017; 65(5):385-389. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565886/.