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

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 Best vitelliform macular dystrophy Best disease Best macular dystrophy Macular degeneration, polymorphic vitelline Best disease Best macular dystrophy Macular degeneration, polymorphic vitelline Vitelliform macular dystrophy type 2 VMD2 BVMD Early-onset vitelliform macular dystrophy Juvenile-onset vitelliform macular dystrophy Polymorphic vitelline macular degeneration See More Summary Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. [1] BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors) and impaired central visual function. [2] BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene ; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents ( bevacizumab) and transcorneal electrical retinal stimulation. [1] Symptoms 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 Cystoid macular degeneration 0008028 Metamorphopsia 0012508 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 Autosomal dominant inheritance 0000006 Macular dystrophy 0007754 Reduced visual acuity Decreased clarity of vision 0007663 Subretinal fluid 0031526 Visual impairment Impaired vision Loss of eyesight Poor vision 0000505 Showing of Cause Best vitelliform macular dystrophy (BVMD) is caused by changes ( mutations ) in the gene . [1] This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD. [3] Inheritance Best vitelliform macular dystrophy (BVMD) is most commonly inherited in an autosomal dominant manner, although a few cases with autosomal recessive inheritance have been reported. [1] In autosomal dominant inheritance, having one changed ( mutated ) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Most people with BVMD have an affected parent, but some people have the condition as the result of a new mutation that occurred for the first time. [1] Autosomal recessive inheritance means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers . Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Diagnosis Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history . An eye exam may include other tests as well. A fundus exam may show a typical yellow yolk-like macular lesion. The EOG, which reflects the retinal pigmentary epithelium function, is the most diagnostic test for evaluating vitelliform macular dystrophy. In the majority of the cases, a severe decrease occurs in light response, reflected by an Arden (light-peak/dark-trough) ratio of 1.1-1.5. (The normal Arden ratio is 1.8.) Carriers will also have an abnormal EOG result. No correlation exists between EOG result and disease stage, visual acuity, or patient age. EOG results are usually symmetric for both eyes. [4] The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance. [1] Genetic testing may also be used to make a diagnosis of BVMD. A BEST1 mutation is detected in about 96% of affected people who have an affected family member. In people with no family history of BVMD, the mutation detection rate ranges between 50-70%. A mutation in BEST1 gene is more probable when a vitelliform lesion is accompanied by a reduced Arden ratio on EOG testing. The exact type of genetic test ordered to confirm a diagnosis may depend on a person's ancestry, family history, and/or whether other eye disorders are also being considered. [1] Treatment There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time. [5] [4] Low vision aids help affected people with significant loss of visual acuity. [6] Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor) agents such as bevacizumab have shown limited success in treating some of the secondary features of BVMD such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina). [6] [5] [4] 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 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. 

Answer: Treatment is symptomatic, involving the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment also includes anti-VEGF agents ( bevacizumab) and transcorneal electrical retinal stimulation.