ABCA4 rs1762111: Understanding This Genetic Variant
The rs1762111 variant is a genetic marker located within the ABCA4 gene, which is essential for maintaining healthy vision. This variant is studied for its potential role as a pathogenic marker in autosomal recessive conditions such as Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa.
What each genotype means
Typical genetic profile
This genotype represents the most common form of this genetic marker found in the general population. It is not associated with the pathogenic effects linked to Stargardt disease or other ABCA4-related retinal conditions.
This is the most frequent genotype observed across global populations.
Carrier of variant
Individuals with this genotype carry one copy of the variant associated with ABCA4-related disorders. Because these conditions are typically inherited in an autosomal recessive pattern, carrying a single copy generally does not cause the disease, though you should consult with a genetic counselor or clinician to understand your specific risk profile.
This genotype is found at varying frequencies depending on ancestral background and is identified as a carrier state in clinical databases.
Potential risk marker
This genotype indicates the presence of two copies of the variant associated with ABCA4-related disorders. This status may be linked to an increased risk for conditions such as Stargardt disease, cone-rod dystrophy, or retinitis pigmentosa, and warrants a discussion with an eye care specialist or geneticist for clinical evaluation.
This genotype is significantly less common than the T/T or C/T genotypes in the general population.
What is the rs1762111 Variant?
The rs1762111 variant is a specific change in the DNA sequence located within the ABCA4 gene. In genomics, an rsID (reference SNP cluster ID) like rs1762111 acts as a unique identifier for a specific location in the human genome. This variant sits within the coding region of the ABCA4 gene, which is situated on the short arm of chromosome 1. Because the ABCA4 gene is quite large and complex, containing 50 exons, researchers track specific variants to understand how they might alter the structure or function of the resulting protein. By identifying this specific site, scientists can study whether the presence of a particular allele at this position correlates with changes in retinal health or the development of inherited eye conditions.
The Role of the ABCA4 Gene
The ABCA4 gene provides instructions for making a protein that is primarily found in the photoreceptor cells of the retina, the light-sensitive tissue at the back of the eye. This protein acts as a transporter, moving vitamin A byproducts out of the photoreceptor cells after they have been exposed to light. When the ABCA4 protein is missing or not functioning correctly, these toxic byproducts can accumulate in the retinal pigment epithelium, forming a substance called lipofuscin. Over time, the buildup of this material is thought to lead to the death of photoreceptor cells, which can result in progressive vision loss. Because the retina relies on this efficient transport system to maintain its structural integrity, any significant disruption to the ABCA4 protein can have profound effects on visual function.
Research and Clinical Associations
Research has established that variants in the ABCA4 gene are the primary cause of several inherited retinal diseases, most notably Stargardt disease, which is the most common form of inherited juvenile macular degeneration. The evidence linking ABCA4 variants to these conditions is considered strong, as the gene is a well-documented driver of retinal dystrophy. Depending on the specific nature of the variant and how much it reduces protein function, the clinical presentation can range from adult-onset macular degeneration to more severe, early-onset conditions like cone-rod dystrophy or retinitis pigmentosa. It is important to note that these conditions are typically inherited in an autosomal recessive pattern, meaning an individual usually needs to inherit two copies of a pathogenic variant—one from each parent—to manifest the disease. The severity of the phenotype often correlates with the degree of residual protein function.
Population Frequency and Variability
The frequency of ABCA4 variants varies significantly across different global populations. While some specific pathogenic variants are rare, others are found more frequently in the general population, leading to a carrier frequency that can be as high as 1 in 20 in certain groups. Because of this relatively high carrier rate, some individuals may carry a single pathogenic variant without showing symptoms, as the condition is recessive. However, the high genetic diversity within the ABCA4 gene means that the prevalence of any single variant, including rs1762111, is not uniform. Researchers often observe that the clinical impact of these variants is influenced by the presence of other genetic modifiers, which can explain why individuals with similar genotypes might experience different levels of disease severity or age of onset.
Interpreting Your Genetic Information
If you have received information about your status for the rs1762111 variant, it is important to understand that this data is for educational purposes and does not constitute a medical diagnosis. Genetic testing for ABCA4-related conditions is complex, as it often requires full gene sequencing to identify both pathogenic alleles and to understand the potential for disease expression. If you are concerned about your risk for inherited retinal diseases or have a family history of vision loss, you should consult with a genetic counselor or an ophthalmologist who specializes in retinal dystrophies. These professionals can provide context based on your personal and family health history, interpret the significance of your specific genotype, and discuss whether clinical diagnostic testing is appropriate for your situation.
How common is this variant?
The frequency of ABCA4 variants is variable across global populations, with carrier frequencies estimated to be as high as 1 in 20 in some groups.
Frequently asked questions
What is Stargardt disease?
Stargardt disease is an inherited condition that causes progressive central vision loss. It is caused by the accumulation of toxic byproducts in the retina due to a malfunctioning ABCA4 protein.
Is rs1762111 a diagnosis for vision loss?
No, identifying a single variant like rs1762111 is not a diagnosis. Inherited retinal diseases are complex, and a clinical diagnosis requires a comprehensive eye exam and professional genetic evaluation.
What does it mean to be a carrier of an ABCA4 variant?
Being a carrier means you have one copy of a pathogenic variant. Because ABCA4-related conditions are recessive, carriers typically do not show symptoms but can pass the variant to their children.
Can I prevent vision loss if I have an ABCA4 variant?
There is currently no way to prevent the onset of these conditions through lifestyle changes alone. You should discuss your genetic results with an eye specialist to understand your specific risks and monitoring needs.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A variant in the ABCA4 gene associated with Stargardt disease.
Pathogenic missense variant in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
Genomic variant within the ATP-binding cassette retinal transporter ABCA4 locus implicated in retinal degenerations and macular disease.
Known as the Gly1961Glu (G1961E) variant in ABCA4, a prevalent hypomorphic mutation contributing to late-onset Stargardt disease and cone-rod dystrophy.
A well-documented pathogenic missense change in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
Pathogenic missense variant in ABCA4 (p.Leu541Pro) causing Stargardt disease and juvenile macular dystrophy.