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What is the history of Best Vitelliform Macular Dystrophy?

When was Best Vitelliform Macular Dystrophy discovered? What is the story of this discovery? Was it coincidence or not?

History of Best Vitelliform Macular Dystrophy

Best Vitelliform Macular Dystrophy (BVMD), also known as Best disease or Vitelliform macular dystrophy 2 (VMD2), is a rare genetic eye disorder that affects the macula, the central part of the retina responsible for sharp central vision. BVMD was first described by Friedrich Best, a German ophthalmologist, in 1905. Since then, significant progress has been made in understanding the disease and its underlying genetic causes.



Early Discoveries:


In the early 20th century, Friedrich Best observed a peculiar yellowish lesion in the macula of affected individuals, which he termed "vitelliform" due to its resemblance to egg yolk. However, it wasn't until the 1960s that further investigations revealed the genetic nature of the disease.



Genetic Basis:


In 1998, the VMD2 gene was identified as the causative gene for BVMD. This gene encodes a protein called bestrophin-1, which plays a crucial role in maintaining the normal functioning of the retinal pigment epithelium (RPE), a layer of cells that supports the photoreceptor cells in the retina. Mutations in the VMD2 gene lead to abnormal bestrophin-1 protein, disrupting the RPE's ability to transport ions and maintain the proper ionic balance, ultimately causing the characteristic vitelliform lesions and progressive vision loss.



Clinical Features:


BVMD typically manifests in childhood or early adulthood, although the age of onset and disease progression can vary. The hallmark of BVMD is the accumulation of lipofuscin, a fatty yellow pigment, in the macula. This results in the formation of vitelliform lesions, which can be observed during an eye examination. Initially, these lesions may cause minimal visual impairment, but as the disease progresses, they can lead to significant central vision loss.



Classification:


BVMD is classified into different stages based on the appearance of the vitelliform lesions and the progression of the disease. The stages include the vitelliform stage, pseudohypopyon stage, vitelliruptive stage, and atrophic stage. Each stage represents a different level of disease severity and visual impairment.



Diagnosis and Management:


Diagnosing BVMD involves a comprehensive eye examination, including visual acuity tests, fundus examination, optical coherence tomography (OCT), and electrooculography (EOG). Genetic testing can confirm the presence of VMD2 gene mutations, aiding in accurate diagnosis and genetic counseling.



Currently, there is no cure for BVMD. However, management strategies focus on preserving vision and addressing associated complications. Regular monitoring of disease progression through eye examinations is crucial. In some cases, treatments such as anti-vascular endothelial growth factor (anti-VEGF) injections or photodynamic therapy may be considered to manage complications like choroidal neovascularization.



Research and Future Perspectives:


Advancements in genetic research have deepened our understanding of BVMD. Ongoing studies aim to identify additional genetic factors that may modify the disease course and explore potential therapeutic targets. Gene therapy and stem cell-based approaches hold promise for future treatment options, with several preclinical studies showing encouraging results.



In conclusion, Best Vitelliform Macular Dystrophy is a rare genetic eye disorder characterized by vitelliform lesions in the macula, leading to progressive central vision loss. While the disease was first described over a century ago, significant progress has been made in understanding its genetic basis and clinical features. Ongoing research offers hope for improved diagnostic techniques and potential therapeutic interventions in the future.


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