What Is Bests Disease?
Best's Disease (also known as Vitelliform Macular Dystrophy, or Best Vitelliform Macular Dystrophy) is an inherited eye disease that affects the macula – the central part the retina that provides sharp and detailed sight. Friedrich Best, a Scotsman who was the first to identify it in early 20th-century research studies, named the disorder after him.
Best's Disease is usually passed down in an autosomal-dominant fashion. This means that an affected person has a 50% chance to pass the condition on to their children. The mutations in the BEST1 gene are the cause. This gene is essential for supporting the retinal pigment epithelium, an outer layer behind the photoreceptor cell in the retina.
Best's Disease is characterized as yellow lesions called "vitelliform lesion" that appear in the macula. These lesions are usually of variable size and form. This can lead to a progressive loss of vision in the central part of the eye over time. It may be experienced initially as distorted vision, decreased visual acuity or difficulty with tasks that require central vision or fine detail, such as reading faces or recognising them.
As the disease progresses, vitelliform lesion may undergo changes, such as thinning and breaking apart of the tissue, scar formation, which can lead to further loss of vision, as well as complications, like choroidal hypervascularization, (abnormal growth in blood vessels), that may cause fluid leakage or bleeding within the macula.
Best's disease affects both of the eyes. However, its severity and progression rate can vary from person to person. Some people may notice symptoms as early as childhood or adolescence, while others may not see any changes in their vision until adulthood.
What is Best's Disease and what are its symptoms?
Best's Disease (vitelliform Macular Dystrophy) is a condition that affects the macula, the central portion of the retina responsible for detail vision. Here are some of the symptoms that Best's disease can cause:
Best's Disease is often accompanied by blurred or distorted central vision. It may manifest as blurry vision, difficulty in reading small print, trouble recognising faces and fine details, or difficulty reading small text.
* Metamorphopsia - Metamorphopsia is a visual distortion in which straight lines appear bent or wavy, causing distortions or making the object appear disfigured. This can affect the perception of objects as they appear irregularly shaped or misshapen.
* As Best's Disease progresses, an area of blindness or scotoma may develop in the central field. It means that there is a loss of vision in the area directly ahead, making it harder to see things directly in front of you.
Best's Disease is characterized by yellow-orange lesions, known as vitelliform lesion in the macula. They are usually round or oval and vary in size. These lesions are caused by lipofuscin accumulation in the retinal pigment epithelium cell.
People with Best's may experience changes in their vision. It may be that the vision is stable for a period of time, then suddenly shifts or worsening events occur.
It can be difficult to determine the severity and progression of Best's Disease for each individual. Some people may notice a gradual decline in vision over time while others may see their symptoms worsen rapidly. Consult an ophthalmologist for a proper diagnosis if you or someone you know exhibits any of these symptoms.
What causes Best's Disease?
Best's Disease (vitelliform Macular Dystrophy) can be caused by mutations in the BEST1 gene. This gene produces bestrophin-1, a protein essential for maintaining the normal function of the retinal pigment epithelium.
Best's is usually autosomally dominantly passed on, which means that a mutation of one copy in the BEST1 gene can trigger symptoms. Best's disease can be recessive, which means that both copies of the DNA are altered. This is rare, but it does happen.
The BEST1 gene is often mutated in individuals with Best's disease, causing abnormalities to occur within RPE cells. These abnormalities can lead to accumulations of lipofuscin waste product inside the RPE cells. This leads to macula lesions that are characteristically "vitelliform." The lipofuscin deposits are responsible for the characteristic "vitelliform" lesions.
Researchers continue to study the condition to gain further insights into the underlying causes of the disease and to identify possible therapeutic approaches.
