BEST1 rs104894333: Understanding This Rare Genetic Variant
The rs104894333 variant is a rare genetic change located within the BEST1 gene. It is associated with Best vitelliform macular dystrophy, an inherited eye condition that affects the central retina.
What each genotype means
Typical BEST1 function
This genotype represents the most common, wild-type sequence for the BEST1 gene. Individuals with this profile do not carry the specific missense mutation associated with classical Best vitelliform macular dystrophy type 2 at this location. This result does not rule out the presence of other genetic variants in BEST1 or other genes that could affect retinal health.
This is the predominant genotype found in the vast majority of the global population.
Potential Best disease risk
This genotype indicates the presence of one copy of the variant associated with Best vitelliform macular dystrophy type 2. Because this condition is typically inherited in an autosomal dominant manner, carrying this variant may be associated with an increased risk of developing macular dystrophy. Clinical expression is highly variable, and you should consult with an ophthalmologist or genetic counselor to discuss potential retinal monitoring.
This specific genotype is extremely rare, with the variant allele frequency reported as less than 0.00005 in gnomAD.
Increased risk of bestrophinopathy
This genotype indicates the presence of two copies of the variant, which is associated with a more severe clinical presentation of bestrophinopathy. Research suggests that having two mutations in the BEST1 gene can lead to more significant retinal pigment epithelium dysfunction compared to a single copy. Please discuss these findings with a medical professional or retinal specialist to understand the clinical implications for your eye health.
This genotype is exceptionally rare in the general population.
What is the rs104894333 Variant?
The rs104894333 variant is a specific change in the DNA sequence of the BEST1 gene. In genetics, a variant like this is often referred to as a missense mutation, meaning it results in a single amino acid change within the protein the gene produces. This variant is located on chromosome 11, specifically at position 11q12.3. Because the BEST1 gene provides instructions for making a protein called bestrophin-1, changes in this sequence can alter the protein's structure or function. Scientists track these variants using rsIDs, such as rs104894333, to ensure they are studying the exact same location across different research studies. While many variants in the human genome are harmless, some, like this one, are investigated for their potential to disrupt normal biological processes.
The Role of the BEST1 Gene
The BEST1 gene is essential for the health of the retinal pigment epithelium (RPE), a layer of cells in the eye that supports the light-sensing photoreceptors. The protein produced by this gene, bestrophin-1, functions as a channel that regulates the flow of chloride ions across cell membranes. By controlling these ions, the protein helps maintain the chemical balance necessary for the RPE to function correctly. When the BEST1 gene is altered, the resulting bestrophin-1 protein may not form or function properly. This dysfunction can lead to the accumulation of a fatty substance called lipofuscin in the RPE cells. Over time, this buildup is thought to interfere with the health of the photoreceptors, which are critical for sharp, central vision, potentially leading to the symptoms associated with various retinal dystrophies.
Research and Clinical Associations
Research has linked variants in the BEST1 gene to a group of eye disorders collectively known as bestrophinopathies. The most well-known of these is Best vitelliform macular dystrophy (BVMD), also called Best disease. This condition is characterized by the progressive degeneration of the macula, the part of the retina responsible for central vision. Evidence for the association between specific BEST1 variants and these conditions is often derived from clinical studies of families affected by retinal disease. While many variants are clearly pathogenic, the clinical impact of any single variant can vary, and some variants are classified as having limited or uncertain significance until more data is collected. It is important to note that genetic associations are not diagnostic on their own; they represent statistical links that require clinical evaluation by an ophthalmologist or a genetic counselor to interpret in the context of an individual's health.
Population Frequency
The rs104894333 variant is considered very rare in the general population. According to data from the Genome Aggregation Database (gnomAD), the frequency of this variant is less than 0.00005, meaning it is found in an extremely small percentage of individuals studied.
What You Can Do With This Information
If you have received information about this variant through genetic testing, it is important to understand that this is not a medical diagnosis. Genetic variants are complex, and their presence does not guarantee that an individual will develop a specific condition. If you are concerned about your eye health or a family history of retinal disease, the most appropriate step is to consult with a healthcare professional, such as an ophthalmologist or a clinical geneticist. They can provide a comprehensive eye examination and interpret genetic findings within the context of your personal and family medical history. Avoid making health decisions based solely on raw genetic data. Always seek guidance from a qualified clinician who can help you understand what these results mean for your specific situation and whether any further clinical monitoring is necessary.
How common is this variant?
The rs104894333 variant is rare in gnomAD, with a frequency of less than 0.00005 across studied populations.
Frequently asked questions
What is Best vitelliform macular dystrophy?
Best vitelliform macular dystrophy is an inherited eye disorder that causes the buildup of fatty deposits in the retina. This accumulation can lead to a gradual loss of central vision over time.
Does having a BEST1 variant mean I will go blind?
Not necessarily. The impact of BEST1 variants varies significantly between individuals, and many people with genetic variants may have mild symptoms or none at all. A clinical eye exam is required to determine the actual impact on vision.
Should I get tested for the rs104894333 variant?
Genetic testing is typically recommended only if you have symptoms of a retinal condition or a strong family history of eye disease. You should discuss the necessity and implications of such testing with a genetic counselor or your eye doctor.
Is there a cure for BEST1-related eye conditions?
Currently, there is no cure for Best vitelliform macular dystrophy. Management focuses on monitoring vision and addressing complications, so regular check-ups with an ophthalmologist are essential.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Encodes the Thr6Arg (T6R) missense change in Bestrophin 1 associated with autosomal dominant Best vitelliform macular dystrophy.
A missense alteration in bestrophin-1 linked to Best vitelliform macular dystrophy and central visual impairment.
Pathogenic missense variant in BEST1 (p.Ala146Thr) linked to autosomal dominant Best vitelliform macular dystrophy causing progressive loss of central vision.
A pathogenic missense variant (p.Tyr227Asn) in BEST1 associated with Best vitelliform macular dystrophy.
Pathogenic missense mutation (p.Arg218Cys) in bestrophin-1 causing Best vitelliform macular dystrophy with subretinal egg-yolk-like lesions.
Pathogenic missense variant (p.Thr6Arg) in BEST1 altering the bestrophin-1 channel causing autosomal dominant Best vitelliform macular dystrophy.