Question: Vitelliform Macular Dystrophy Would like to obtain more info on possible treatments.

Reference:
 Adult-onset vitelliform macular dystrophy 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 Summary 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] Symptoms 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] 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 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 Abnormality of color vision Abnormal color vision 0000551 Choroideremia 0001139 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 0000613 Reduced visual acuity Decreased clarity of vision 0007663 Showing of Cause 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] Inheritance The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant 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] Diagnosis 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 Orphanet lists international laboratories offering diagnostic testing for this condition. Treatment 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] Find a Specialist 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 To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. Related Diseases 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. 

Answer: 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 ).