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Best Vitelliform Macular Dystrophy (BVMD) is an autosomal dominant disorder, meaning that a single copy of the mutated BEST1 gene is sufficient to cause the disease. Protheragen is proud to offer a comprehensive suite of services to support the advancement of Best vitelliform macular dystrophy therapy development.
Best Vitelliform Macular Dystrophy (BVMD), otherwise referred to as Best disease, is a genetic macular disorder marked by macular proliferation leading to central vision impairment. Next generation or whole exome sequencing reveals mutations in the BEST1 gene which is responsible for the synthesis of the integral membrane protein bestrophin-1. The evidence suggests that BVMD appears in childhood or adolescence and is estimated to affect between 1 in 10,000 to 1 in 20,000 people. The lesions progress through stages, starting with a classical yellow "egg-yolk" lesion in the macula, and leading to atrophy and possible choroidal neovascularization (CNV).
Fig.1 Multimodal imaging features of the subclinical stage of Best Vitelliform Macular Dystrophy. (Bianco L., et al., 2024)The identification of BVMD relies primarily on genetic tests for BEST1 mutations. More than 200 BEST1 variants have already been recorded, all of which are linked to a diverse array of retinal phenotypes. Precise genetic diagnoses not only provide clarity on the condition but also on the identification of carriers and further genetic counseling for the families involved.
Anti-VEGF Therapy
Anti-VEGF agents such as bevacizumab appear to be effective in managing CNV associated with BVMD. These agents prevent the growth of abnormal vessels and thus help to reduce leakage and improve vision. Patients receiving intravitreal anti-VEGF injections have demonstrated considerable visual recovery. There is, however, a paucity of information regarding long-term follow-up data. The efficacy of this therapeutic in the pediatric population is still being researched.
Photodynamic Therapy (PDT)
PDT with verteporfin has proven effective in treating subfoveal CNV in BVMD. PDT is the therapy in which malign tissues, such as new blood vessels, are distinguished from normal tissues and their activities are lowered. In long-term follow up studies, cases who underwent PDT have shown significant visual improvement after the therapeutic, underscoring the strengths of this method.
Gene Therapy
Gene therapy is often viewed as the next step for further developing BVMD therapeutic options. The area of focus currently is the construction of viral vectors for transferring functional BEST1 genes to the RPE cells. Preclinical studies depict a successful correction of the genetic defect and restoration of typical chloride channel function. The human trials for safety and efficacy of gene therapy have already been initiated regarding BVMD.
Protheragen is at the forefront of developing advanced diagnostics and therapeutics for Best Vitelliform Macular Dystrophy. Our comprehensive services include state-of-the-art genetic analysis and preclinical research.
Protheragen's preclinical research services also focus on developing gene therapy approaches for BVMD. We design and optimize viral vectors to deliver functional BEST1 genes to the RPE cells, aiming to restore normal chloride channel function and prevent disease progression. If you are interested in our services, please feel free to contact us.
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