RHO rs104893789: What Your Genotype Means
The genetic variant rs104893789 is located within the RHO gene. It is classified as a pathogenic variant associated with autosomal dominant congenital stationary night blindness.
What each genotype means
Typical rhodopsin function
This is the common, wild-type genotype for the RHO gene at this position. Individuals with this genotype do not carry the specific pathogenic variant associated with autosomal dominant congenital stationary night blindness.
This is the most common genotype found in the general population.
Increased risk of night blindness
This genotype indicates the presence of a pathogenic variant in one copy of the RHO gene. This variant is associated with autosomal dominant congenital stationary night blindness, a condition where rhodopsin can activate without light, disrupting rod cell signaling. Please consult with a medical professional or genetic counselor to discuss these findings and their clinical implications.
This genotype is extremely rare in the general population.
High risk of night blindness
This genotype indicates the presence of the pathogenic variant in both copies of the RHO gene. This variant is linked to autosomal dominant congenital stationary night blindness, which affects vision in low-light conditions. Please consult with a medical professional or genetic counselor to discuss these findings and their clinical implications.
This genotype is extremely rare in the general population.
Understanding the SNP and Its Location
The variant rs104893789 is a single nucleotide polymorphism (SNP) found on chromosome 3. Specifically, it is located within the RHO gene, which provides the blueprint for the rhodopsin protein. In genetic databases, this variant is identified by its rsID, a unique reference number used by researchers to track specific locations in the human genome. Because this variant is located in a gene critical for vision, changes at this specific position can have significant impacts on how the eye processes light. Geneticists study these variations to understand how small changes in our DNA sequence can lead to differences in health and physical traits.
The Role of the RHO Gene
The RHO gene is responsible for producing rhodopsin, a protein found in the rod cells of the retina. Rod cells are the specialized photoreceptors in the back of the eye that allow us to see in low-light conditions. When light hits the retina, it interacts with the rhodopsin protein, triggering a chemical signal that is sent to the brain to create an image. Because rhodopsin is essential for night vision, any structural defect in this protein can disrupt the normal function of rod cells. When the RHO gene contains a pathogenic variant, the resulting rhodopsin may not function correctly, which is a known cause of various retinal disorders, including congenital stationary night blindness.
Research and Clinical Associations
Research has linked the rs104893789 variant to autosomal dominant congenital stationary night blindness (CSNB). This condition is characterized by a lifelong, non-progressive difficulty in seeing or distinguishing objects in dim light or darkness. The evidence for this association is considered moderate to strong in clinical literature, as it is documented in databases like ClinVar and OMIM. It is important to note that CSNB is a genetically heterogeneous condition, meaning it can be caused by mutations in many different genes, not just RHO. While this specific variant is identified as pathogenic, the clinical expression of such variants can vary between individuals, even within the same family, due to complex interactions between genetics and the environment.
What This Information Means for You
If you have encountered this variant in a genetic report, it is essential to understand that this information is for educational purposes only and does not constitute a medical diagnosis. Genetic variants associated with rare conditions like congenital stationary night blindness are complex and often require professional clinical interpretation. If you have concerns about your vision or a family history of retinal disorders, the most appropriate step is to consult with a healthcare provider, such as an ophthalmologist or a genetic counselor. They can provide context based on your personal health history and, if necessary, recommend appropriate clinical testing. Never use genetic data to make medical decisions without the guidance of a qualified professional.
How common is this variant?
There is currently no specific population frequency data recorded for this variant in major public databases.
Frequently asked questions
What is congenital stationary night blindness?
It is a group of non-progressive retinal disorders that cause difficulty seeing in low-light conditions. The term 'stationary' means the condition does not typically worsen over time.
Is this variant common?
There is no recorded population frequency for this specific variant. It is considered a rare genetic finding.
Does having this variant mean I will have night blindness?
Genetic associations are complex. While this variant is labeled as pathogenic, you should discuss your specific results with a genetic counselor or eye specialist to understand what it means for your health.
Can I fix this genetic variant?
Currently, there are no gene-editing treatments available for this specific variant. Management of retinal conditions focuses on clinical monitoring and supportive care provided by eye specialists.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Pathogenic missense variant causing rhodopsin Pro23His substitution that leads to autosomal dominant retinitis pigmentosa and progressive night blindness.
Constitutively active rhodopsin variant (Gly90Asp) causing autosomal dominant congenital stationary night blindness (CSNB).
Encodes the Pro23His (P23H) substitution in rhodopsin, the most common autosomal dominant retinitis pigmentosa allele in North America.
A non-synonymous variant altering rhodopsin protein structure that causes autosomal dominant retinitis pigmentosa with progressive rod photoreceptor loss.
Rhodopsin missense variant (p.Pro23His) responsible for classical autosomal dominant retinitis pigmentosa with rod photoreceptor degeneration.
Classic Pro23His (p.P23H) mutation in rhodopsin causing autosomal dominant retinitis pigmentosa.