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

Reference:
Best vitelliform macular dystrophy: 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] 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 Metamorphopsia Very frequent Visual impairment Very frequent Abnormality of color vision Frequent Choroideremia Occasional Visual field defect Occasional Abnormal electroretinogram - Autosomal dominant inheritance - Macular dystrophy - Reduced visual acuity - 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] 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. 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] 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] Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Answer: 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.