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?
How is Best vitelliform macular dystrophy diagnosed?
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.
The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance.
Genetic testing may also be used to make a diagnosis of BVMD. A BEST1mutation 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.
Last updated: 10/14/2016
What conditions are similar to Best vitelliform macular dystrophy?
Best vitelliform macular dystrophy (BVMD) is typically recognized by its distinct lesion in the macula, but there are a few diseases of the retina that may be confused with BVMD. They include:
Adult-onset vitelliform macular dystrophy (AVMD). This form of vitelliform macular dystrophy affects mainly middle-aged people and is inherited in an autosomal dominant manner. The findings on a fundus exam can easily be mistaken for BVMD, but the electrooculogram (EOG) is normal or only slightly reduced in affected people. There is significant overlap of signs and symptoms between BVMD and AVMD.
Age-related macular degeneration (AMD). This common disorder is characterized by drusen (yellow deposits under the retina); disruption of the pigmented layer of the retina (retinal pigment epithelium); and choroidal neovascularization (growth of new blood vessels in the choroid).