Best Disease: Symptoms, Causes, Treatment

What are the symptoms of Best disease?

Best disease, also known as vitelliform macular dystrophy, is a rare genetic eye disorder that affects the macula, a small area in the center of the retina that is responsible for sharp, central vision. Symptoms of Best disease typically develop in childhood or early adulthood and can vary widely among affected individuals. Common symptoms include:

1. Blurred or Distorted Central Vision: A gradual loss of central vision is often the first symptom. This can make it difficult to see fine details, read, or recognize faces.
2. Metamorphopsia: Straight lines may appear wavy or distorted, which can affect tasks such as reading or driving.
3. Central Scotoma: A blind spot may develop in the center of the visual field.
4. Decreased Visual Acuity: Vision may become progressively worse over time.
5. Light Sensitivity: Some individuals may become more sensitive to bright lights or glare.
6. Color Vision Changes: Difficulty distinguishing between certain colors may occur in some cases.
7. Macular Lesions: Yellowish deposits, known as vitelliform lesions, may develop in the macula. These can sometimes be seen during an eye examination.

It’s important to note that the progression of Best disease can vary. Some individuals may have mild symptoms that remain stable for many years, while others may experience more rapid vision loss. Best disease typically affects both eyes, but the severity can differ between the two eyes.

Best disease is caused by mutations in the BEST1 gene, which is involved in the normal function of the retinal pigment epithelium (RPE) cells in the macula. The RPE cells help maintain the health of the light-sensitive cells in the retina. Dysfunction of the RPE cells leads to the formation of vitelliform lesions and the vision problems associated with Best disease.

There is currently no cure for Best disease, but regular monitoring by an eye care professional is important for managing symptoms and detecting any complications or vision changes. Treatment options are limited and focus on symptom management and support.

What are the causes of Best disease?

Best disease, also known as vitelliform macular dystrophy, is a genetic disorder caused by mutations in the BEST1 gene. This gene provides instructions for making a protein called bestrophin-1, which is found in the retinal pigment epithelium (RPE) cells of the eye. The RPE cells are located in the back of the eye and play a crucial role in supporting the function of the light-sensitive cells in the retina.

Mutations in the BEST1 gene lead to the production of a faulty bestrophin-1 protein or reduce the amount of functional protein produced. This dysfunction in bestrophin-1 disrupts the normal function of RPE cells, which can lead to the formation of yellowish deposits called vitelliform lesions in the macula, the central part of the retina responsible for sharp, central vision.

The exact mechanism by which mutations in the BEST1 gene cause Best disease is not fully understood. However, it is believed that the accumulation of vitelliform lesions and dysfunction of RPE cells contribute to the vision problems associated with Best disease, including blurred or distorted central vision and other symptoms.

Best disease is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. In some cases, Best disease can also occur sporadically, meaning that there is no family history of the condition, and the mutation arises spontaneously.

Because Best disease is a genetic disorder, there is currently no cure. Treatment focuses on managing symptoms and providing support to individuals affected by the condition. Genetic counseling may be recommended for individuals with a family history of Best disease to understand the risk of passing the mutated gene to future generations.

What is the treatment for Best disease?

Currently, there is no specific treatment or cure for Best disease, also known as vitelliform macular dystrophy. Management of the condition focuses on monitoring for changes in vision and providing support to help individuals cope with the visual changes and potential complications. Treatment options may include:

1. Regular Monitoring: Routine eye examinations are important to monitor the progression of Best disease and detect any changes in vision. Your eye care professional may use tests such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging to assess the retina and macula.
2. Low Vision Aids: As vision loss progresses, low vision aids such as magnifiers, telescopic lenses, or electronic devices may help improve visual function and quality of life.
3. Genetic Counseling: If you have Best disease or a family history of the condition, genetic counseling can help you understand the inheritance pattern and the risk of passing the mutated gene to future generations.
4. Symptomatic Treatment: In some cases, treatments may be prescribed to manage symptoms such as metamorphopsia (distorted vision) or central scotoma (blind spot). This could include low-dose anti-vascular endothelial growth factor (anti-VEGF) injections or other medications.
5. Lifestyle Modifications: Protecting your eyes from bright lights and wearing sunglasses outdoors may help manage light sensitivity.
6. Clinical Trials: Participation in clinical trials may be an option for some individuals. These trials investigate new treatments or therapies for Best disease.

It’s important for individuals with Best disease to work closely with an ophthalmologist or retina specialist to monitor their condition and discuss available treatment options. While there is currently no cure for Best disease, ongoing research may lead to new treatments or therapies in the future.