Best disease, also known as Best vitelliform macular dystrophy or vitelliform macular dystrophy 2 (VMD2), is a rare inherited eye disorder that primarily affects the macula, which is the central part of the retina responsible for sharp central vision. This article aims to provide simple and straightforward explanations of the types, causes, symptoms, diagnostic tests, treatments, drugs, and additional details related to Best disease.
Types of Best Disease:
- Classic Best Disease: This is the most common type, characterized by the accumulation of yellowish deposits, known as vitelliform lesions, in the macula.
- Classic Best Disease: Classic Best disease is the most common form, characterized by the accumulation of yellowish deposits in the macula.
- Autosomal Recessive Bestrophinopathy (ARB): ARB is a less common form of Best disease that results from mutations in different genes and typically affects both eyes.
- Adult-Onset Vitelliform Macular Dystrophy (AVMD): AVMD usually manifests in adulthood and progresses more slowly than the classic form.
Causes of Best Disease:
- Genetic Mutation: Best disease is primarily caused by a mutation in the BEST1 gene, which provides instructions for making a protein called bestrophin-1. This mutation leads to the accumulation of abnormal lipofuscin in the macula.
- Inheritance: Best disease is typically inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene from one parent can lead to the development of the condition.
- Sporadic Cases: In rare instances, Best disease may occur without a known family history due to sporadic genetic mutations.
Symptoms of Best Disease:
- Blurred Central Vision: The most common symptom is a gradual loss of sharp central vision, making it challenging to read, recognize faces, or perform tasks that require clear sight.
- Distorted Vision: Some individuals may experience distorted or wavy vision.
- Vitelliform Lesions: Yellowish deposits in the macula can be observed during an eye exam.
- Difficulty Seeing in Low Light: Best disease may make it difficult to see in dimly lit environments.
- Color Vision Changes: Color perception may be affected in some cases.
Diagnostic Tests for Best Disease:
- Electrooculography (EOG): This test measures the electrical activity of the retina and can help diagnose Best disease.
- Optical Coherence Tomography (OCT): OCT uses light waves to create detailed images of the retina, helping to identify vitelliform lesions.
- Fluorescein Angiography: A dye is injected into the bloodstream, and photographs are taken to detect abnormalities in blood vessels.
- Genetic Testing: DNA testing can identify mutations in the BEST1 gene, confirming the diagnosis.
Treatments for Best Disease:
- Observation: In some cases, no specific treatment is required, and regular eye exams are sufficient to monitor the condition.
- Low Vision Aids: Devices such as magnifiers and telescopic lenses can help individuals with visual impairment perform daily tasks.
- Anti-VEGF Therapy: Some studies suggest that anti-VEGF drugs may help reduce fluid leakage in the macula and improve vision.
- Gene Therapy (Experimental): Research is ongoing to develop gene therapies that could potentially correct the genetic mutation responsible for Best disease.
Drugs Used in Best Disease Management:
- Anti-VEGF Drugs: These include medications like ranibizumab (Lucentis) and aflibercept (Eylea) that are sometimes used to treat macular degeneration, although their effectiveness in Best disease is still under investigation.
- Bevacizumab (Avastin): Bevacizumab is an anti-VEGF medication used in some cases to reduce macular edema and fluid accumulation.
- Ranibizumab (Lucentis): Ranibizumab is another anti-VEGF drug that may be prescribed to manage macular edema in individuals with Best disease.
- Eculizumab (Soliris): Eculizumab is used in rare cases of Best disease with severe complications, such as choroidal neovascularization.
Additional Details about Best Disease:
- Genetic Inheritance: Best disease is typically inherited in an autosomal dominant manner, meaning a person with one mutated BEST1 gene has a 50% chance of passing it on to their offspring.
- Onset: Symptoms of Best disease often appear in childhood or early adulthood.
- Progression: The progression of the disease can vary from person to person, and some individuals may maintain relatively good vision for many years.
- Lipofuscin Accumulation: The hallmark of Best disease is the accumulation of lipofuscin, a fatty yellow pigment, in the macula.
- No Cure: Currently, there is no cure for Best disease, but ongoing research offers hope for future treatments.
In summary, Best disease is a rare genetic eye condition that affects central vision due to the buildup of abnormal deposits in the macula. It is typically diagnosed through tests like EOG, OCT, and genetic testing. While there is no cure, management options include observation, low vision aids, and experimental treatments such as gene therapy. Understanding the causes, symptoms, and available treatments for Best disease is essential for individuals and families affected by this condition.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.
