ABCA4 rs61748550: What Your Genotype Means
The rs61748550 variant is a specific genetic change located within the ABCA4 gene. It is associated with autosomal recessive inherited retinal diseases, meaning it is typically only linked to health conditions when two copies of a pathogenic variant are present.
What each genotype means
Typical genetic profile
This genotype represents the most common form of the ABCA4 gene at this position. It is not associated with the increased risk of inherited retinal diseases linked to this specific variant.
This is the most common genotype found in the general population across all ancestries.
Carrier status
You carry one copy of the variant allele, which is consistent with being a carrier for autosomal recessive inherited retinal diseases. Being a carrier typically does not cause symptoms, but you should discuss this result with a genetic counselor to understand potential implications for family planning.
This genotype is rare, observed at a frequency of approximately 0.005% in East Asian populations and at similarly low frequencies in other global populations.
Potential disease-associated genotype
This genotype involves two copies of the variant allele, which has been observed in individuals with ABCA4-associated retinal conditions such as Stargardt disease. Because this variant is associated with recessive inheritance, having two copies may increase the likelihood of developing retinal symptoms; please consult with an ophthalmologist or clinical geneticist for a formal evaluation.
This genotype is extremely rare in the general population.
Understanding the Variant
The rs61748550 variant is a single nucleotide polymorphism (SNP) located in the ABCA4 gene. In genetic terms, this specific change creates a premature translational stop signal, often denoted as p.Arg408*. This type of change is known as a nonsense variant, which typically leads to the production of a truncated or incomplete protein. Because the body relies on the full-length protein to function correctly, such variants are often investigated for their potential to disrupt normal biological processes. In the context of the ABCA4 gene, this disruption is a known mechanism that can contribute to the development of certain inherited retinal conditions.
The Role of the ABCA4 Gene
The ABCA4 gene provides instructions for making a protein that is essential for the health of the retina, the light-sensitive tissue at the back of the eye. This protein acts as a transporter, helping to clear out toxic byproducts that accumulate in photoreceptor cells after they detect light. When the ABCA4 protein is absent or dysfunctional, these byproducts can build up and form toxic deposits, which may eventually damage the light-sensing cells. This process is the underlying cause of several retinal dystrophies, including Stargardt disease, cone-rod dystrophy, and certain forms of retinitis pigmentosa. Because the condition is autosomal recessive, an individual usually needs to inherit two non-functional copies of the gene—one from each parent—to experience symptoms.
Research and Evidence
Research into rs61748550 has identified it as a variant of interest in the study of inherited retinal diseases. It has been observed in individuals diagnosed with conditions such as Stargardt disease or retinitis pigmentosa. The evidence supporting its role as a disease-causing variant is grounded in the fact that it is a loss-of-function mutation in a gene where such mutations are well-documented to cause pathology. However, because it is a rare variant, clinical data is limited compared to more common mutations. Scientists continue to study how this specific variant interacts with other genetic factors, as the severity of retinal disease can often be influenced by a combination of different alleles and environmental modifiers.
What This Information Means for You
If you have received information about your status for rs61748550, it is important to understand that this is a carrier-status variant. Being a carrier means you have one copy of the variant, which typically does not cause symptoms of the associated retinal diseases. Because these conditions are recessive, carriers are generally unaffected. However, if you are concerned about your genetic health or family history, this information should be discussed with a qualified healthcare professional or a genetic counselor. They can provide context based on your specific medical history and help you understand the implications of your results. Never use genetic data to self-diagnose or make medical decisions without professional guidance.
How common is this variant?
The rs61748550 variant is rare, with a reported frequency of approximately 0.005% in East Asian populations according to data from the Genome Aggregation Database (gnomAD).
Frequently asked questions
What is Stargardt disease?
Stargardt disease is an inherited retinal condition that causes progressive vision loss, typically starting in childhood or adolescence. It is primarily caused by mutations in the ABCA4 gene that lead to the accumulation of toxic deposits in the retina.
Does having this variant mean I will go blind?
No. Having one copy of a recessive variant does not mean you will develop the disease. Even if you have two copies, the severity and progression of retinal diseases can vary significantly between individuals due to other genetic and environmental factors.
Should I get my children tested?
Genetic testing decisions for children should be made in consultation with a pediatrician or a genetic counselor. They can help you weigh the benefits and limitations of testing based on your family history and clinical needs.
Is there a cure for ABCA4-related diseases?
Currently, there is no cure for ABCA4-associated retinal diseases, and research is ongoing. Management focuses on supportive care, such as using low-vision aids and protecting the eyes from excessive light exposure.
Sources & further reading
Educational information only, last refreshed 11/1/2026. 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.
Known as the Gly1961Glu (G1961E) variant in ABCA4, a prevalent hypomorphic mutation contributing to late-onset Stargardt disease and cone-rod dystrophy.
Genomic variant within the ATP-binding cassette retinal transporter ABCA4 locus implicated in retinal degenerations and macular disease.
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.