Which are the symptoms of Best Vitelliform Macular Dystrophy?

Symptoms of Best Vitelliform Macular Dystrophy

Best Vitelliform Macular Dystrophy (BVMD), also known as Best disease, is a rare genetic eye disorder that affects the macula, the central part of the retina responsible for sharp central vision. This condition typically begins in childhood or adolescence and progresses slowly over time. BVMD is characterized by the accumulation of lipofuscin, a fatty yellow pigment, in the macula, leading to vision loss and other visual abnormalities.

1. Visual Disturbances: The most common symptom of BVMD is a gradual decline in central vision. Individuals with BVMD may experience blurred or distorted vision, difficulty reading, and problems with color perception. As the disease progresses, central vision may become progressively worse, while peripheral vision remains relatively unaffected.

2. Vitelliform Lesions: BVMD is characterized by the presence of vitelliform lesions, which are yellowish deposits of lipofuscin that accumulate in the macula. These lesions can be observed during an eye examination and are often described as resembling an egg yolk or a bull's eye. The appearance of these lesions may vary among individuals and can change over time.

3. Metamorphopsia: Metamorphopsia refers to a visual distortion where straight lines appear wavy or bent. This symptom is commonly reported by individuals with BVMD and can significantly impact their ability to perform daily activities that require precise vision, such as reading, driving, or recognizing faces.

4. Photopsia: Some individuals with BVMD may experience photopsia, which is the perception of flashing lights or flickering in their visual field. These visual disturbances can occur spontaneously or be triggered by changes in lighting conditions.

5. Reduced Visual Acuity: As BVMD progresses, the loss of central vision can lead to reduced visual acuity. This means that individuals may have difficulty seeing fine details, such as small print or facial features. In severe cases, central vision may be severely impaired, resulting in legal blindness.

6. Variable Disease Course: BVMD can exhibit significant variability in its presentation and progression. While some individuals may experience mild visual symptoms and slow disease progression, others may have more severe vision loss at an earlier age. The rate of disease progression can also vary, with some individuals experiencing stable vision for many years before any significant decline.

7. Family History: BVMD is an inherited condition, and a family history of the disease is often present. It follows an autosomal dominant pattern of inheritance, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

It is important to note that the symptoms and disease course of BVMD can vary widely among individuals. Some individuals may have mild symptoms and retain good visual function throughout their lives, while others may experience significant vision loss and functional impairment. Regular eye examinations and genetic testing can help diagnose BVMD and monitor its progression.