{"id":17936,"date":"2026-07-20T12:03:29","date_gmt":"2026-07-20T12:03:29","guid":{"rendered":"https:\/\/www.eyecliniclondon.com\/blog\/?p=17936"},"modified":"2026-07-20T12:39:19","modified_gmt":"2026-07-20T12:39:19","slug":"genetic-testing-inherited-retinal-diseases","status":"publish","type":"post","link":"https:\/\/www.eyecliniclondon.com\/blog\/genetic-testing-inherited-retinal-diseases\/","title":{"rendered":"Genetic Testing for Inherited Retinal Diseases: Who Should Consider It?"},"content":{"rendered":"<p>Inherited retinal diseases (IRDs) are a group of genetic conditions that can lead to gradual vision loss over time. Conditions such as retinitis pigmentosa, Stargardt disease and choroideremia may cause symptoms like difficulty seeing in low light, reduced peripheral vision or changes in your central vision. Understanding what is causing these changes can help you and your healthcare team plan the right approach to care.<\/p>\n<p>In the past, diagnosing IRDs mainly depended on eye examinations, symptoms and family history. Genetic testing aims to identify one or more disease-causing genetic variants that could explain your condition. It can provide a confirmed molecular diagnosis for many people, but testing does not identify the cause in every case.<\/p>\n<p>Genetic testing may provide information about the clinical features typically associated with a particular gene-related condition. However, it may not predict exactly how quickly your vision will change or what your future level of vision will be.<\/p>\n<p>Advances in sequencing and variant interpretation have increased the range of genetic changes that laboratories can investigate. However, access, test coverage and the likelihood of receiving a molecular diagnosis still vary between clinical pathways and individual conditions.<\/p>\n<h2>Understanding Inherited Retinal Diseases<\/h2>\n<p>Inherited retinal diseases (IRDs) are caused by changes in genes that are important for the structure and function of the retina. The retina plays a vital role in converting light into signals that the brain can interpret. Depending on the condition, disease-causing genetic variants may disrupt photoreceptors, the retinal pigment epithelium or other cells involved in normal retinal function.<\/p>\n<p>If you have an IRD, your symptoms may not always be the same as someone else with the same genetic change. This variation can make diagnosis challenging, which is why a detailed eye assessment and genetic testing are often important for understanding the condition accurately.<\/p>\n<p>IRDs include several different types, such as rod-cone dystrophies like retinitis pigmentosa, cone-rod dystrophies, macular dystrophies such as Stargardt disease and chorioretinal dystrophies. Each condition can progress differently, but all have the potential to affect your vision, making an accurate genetic diagnosis an important part of planning your care.<\/p>\n<h2>The Role of Genetic Testing<\/h2>\n<p>Genetic testing aims to identify one or more disease-causing genetic variants that could explain an inherited retinal disease. It can provide a molecular diagnosis for many people, but it does not identify the cause in every case.<\/p>\n<p>It can also help distinguish between retinal conditions that may look similar during an eye examination. This is important because having an accurate diagnosis allows your specialist to create a more personalised approach to monitoring, treatment and support.<\/p>\n<p>For example, two people may both experience central vision loss, but one may have Stargardt disease while another may have cone-rod dystrophy. Genetic testing can reveal the underlying cause, helping you and your healthcare team plan the most appropriate follow-up and management.<\/p>\n<h2>Benefits of Genetic Testing<\/h2>\n<p>Genetic testing can provide valuable information if you or your family are affected by an inherited retinal disease (IRD). By identifying the specific genetic change involved, the results can help guide diagnosis, treatment decisions and future planning.<\/p>\n<ul>\n<li><strong>Accurate Diagnosis:<\/strong> Genetic testing can confirm whether a suspected inherited retinal condition is caused by a specific gene change. It can also help differentiate between retinal diseases that may have similar symptoms.<\/li>\n<li><strong>Prognostic Information:<\/strong> A confirmed molecular diagnosis may provide information about the clinical pattern reported in other people with the same gene-related condition. Individual outcomes can vary, so the result should not be treated as a precise forecast of when or how quickly your vision will change.<\/li>\n<li><strong>Treatment or Trial Eligibility:<\/strong> Some findings may help determine whether you meet the genetic criteria for a licensed gene-specific treatment or a clinical trial. Other clinical factors will also affect eligibility, and a genetic result does not guarantee access.<\/li>\n<li><strong>Family Planning:<\/strong> Genetic results can help families understand how an inherited retinal disease is passed on and the possible risks for future children. This information can support informed family planning decisions.<\/li>\n<li><strong>Earlier Support and Monitoring:<\/strong> A confirmed diagnosis may support appropriate retinal monitoring, visual rehabilitation, management of associated eye or systemic concerns and timely discussion of available treatment or research opportunities. Genetic testing itself does not prevent vision loss.<\/li>\n<\/ul>\n<p>Overall, genetic testing helps you and your healthcare team better understand the condition, make informed care decisions and explore available treatment options based on your individual genetic results.<\/p>\n<h2>Who Should Consider Testing?<\/h2>\n<p>Genetic testing may be recommended if you have been diagnosed with an inherited retinal disease or if your eye specialist suspects that your vision changes may have a genetic cause. It can provide valuable information about your condition and help guide your future care.<\/p>\n<p>You may also consider testing if you have a family history of retinal degeneration, if your child shows early signs of vision problems linked to a possible genetic cause, or if you are interested in taking part in clinical trials or accessing emerging treatments. Families planning future pregnancies may also find genetic testing helpful for understanding potential inherited risks.<\/p>\n<p>Early testing can be especially valuable for childhood-onset inherited retinal diseases, as it may allow monitoring, support and appropriate interventions to begin sooner. Having a clearer understanding of the genetic cause can help you and your healthcare team make more informed decisions about your eye health.<\/p>\n<p><strong>Clinical Tip<\/strong><\/p>\n<p>Bring previous eye reports, retinal images and any available family information to your appointment. Details such as relatives with night blindness, tunnel vision, early central vision loss or unexplained sight impairment can help your specialist select and interpret the most appropriate test.<\/p>\n<h2>Timing of Testing<\/h2>\n<p>Genetic testing may be considered at the time an inherited retinal disease is suspected or diagnosed, provided the result is likely to offer meaningful clinical or family information. Testing can be appropriate during childhood when a child has symptoms or retinal findings and the result may affect diagnosis, monitoring, treatment or wider medical care.<\/p>\n<p>Decisions about testing an unaffected child should be made with specialist genetic advice, particularly when the condition is not expected to cause problems until adulthood. The timing should therefore be personalised rather than based on a universal age threshold.<\/p>\n<h2>Genetic Counselling<\/h2>\n<p><img decoding=\"async\" class=\"alignnone wp-image-15990 size-full\" src=\"https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/02\/46.jpg\" alt=\"\" width=\"1100\" height=\"600\" \/><\/p>\n<p>Genetic counselling is an important part of the genetic testing process and helps you understand what testing may mean for you and your family. A genetic counsellor can explain how the test works, what different results may show and what information you may learn from the outcome.<\/p>\n<p>They can also help you understand inheritance patterns and how your results could affect your relatives. This support can be especially valuable when you are considering questions about family planning, future risks or ongoing healthcare decisions.<\/p>\n<p>Genetic testing can bring emotional and practical concerns, and a genetic counsellor is there to help you work through them. By providing clear information and guidance, they help you make informed choices and feel better prepared for the possible results.<\/p>\n<p>Depending on the service and the complexity of the suspected condition, counselling may be provided by an ophthalmic genetics professional, a genetic counsellor or a clinical geneticist.<\/p>\n<h2>Types of Genetic Tests<\/h2>\n<p>The most appropriate test depends on your retinal findings, suspected diagnosis, inheritance pattern and whether you have any non-eye symptoms. In NHS England, testing is selected through the National Genomic Test Directory rather than simply choosing the broadest available test.<\/p>\n<ul>\n<li><strong>Condition-specific analysis:<\/strong> Used when the clinical findings strongly suggest a particular condition, gene or inheritance pattern.<\/li>\n<li><strong>Retinal-disease gene analysis:<\/strong> Examines a curated group of genes known to be associated with inherited retinal disorders.<\/li>\n<li><strong>Whole genome sequencing:<\/strong> May be used within the relevant NHS pathway, with the analysis focused on genes and variant types relevant to the clinical presentation.<\/li>\n<li><strong>Additional or extended analysis:<\/strong> May occasionally be considered when initial testing is inconclusive and the clinical suspicion remains strong.<\/li>\n<\/ul>\n<p>Different tests detect different types of genetic variation. Your specialist and genomic laboratory will select the approach most likely to answer the clinical question.<\/p>\n<h2>Accuracy and Limitations<\/h2>\n<p>Genetic testing can be extremely helpful in understanding inherited retinal diseases, but it is important to remember that no test is completely perfect. Although modern tests are highly accurate, some genetic changes may not be detected, and you may sometimes receive results showing variants where the meaning is not yet clear.<\/p>\n<p>If your results include a variant of uncertain significance, your eye specialist or genetic counsellor will help you understand what it may mean. They will look at your genetic findings alongside your eye examination, symptoms and medical history to decide whether the result is linked to your condition.<\/p>\n<p>A negative genetic test does not always rule out an inherited retinal disease. Some genetic causes may not yet be identified, which is why your ongoing eye assessments and follow-up appointments remain important when your symptoms suggest a genetic condition.<\/p>\n<h2>Possible Genetic Test Results<\/h2>\n<table>\n<thead>\n<tr>\n<td><strong>Possible result<\/strong><\/td>\n<td><strong>What it may mean<\/strong><\/td>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>Pathogenic or likely pathogenic variant identified<\/td>\n<td>The result may provide or support a molecular diagnosis when it matches the clinical findings and inheritance pattern<\/td>\n<\/tr>\n<tr>\n<td>No relevant variant identified<\/td>\n<td>The test has not found a confirmed molecular cause, but an inherited retinal disease may still be present<\/td>\n<\/tr>\n<tr>\n<td>Variant of uncertain significance<\/td>\n<td>A genetic change has been found, but current evidence is insufficient to decide whether it caused the condition<\/td>\n<\/tr>\n<tr>\n<td>Carrier finding<\/td>\n<td>The person carries a variant associated with a recessive or X-linked condition, but the meaning depends on the gene, inheritance pattern and clinical findings<\/td>\n<\/tr>\n<tr>\n<td>Unexpected or additional finding<\/td>\n<td>Occasionally, testing may identify information outside the original clinical question; the possibility should be discussed before testing<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>A variant of uncertain significance should not be treated as a confirmed diagnosis or used by itself to predict disease, determine treatment eligibility or test unaffected relatives.<\/p>\n<p><strong>Research Insight<\/strong><\/p>\n<p>A systematic review estimated that next-generation sequencing identifies a molecular diagnosis in approximately 52% to 74% of people with inherited retinal diseases. However, results varied substantially between studies, conditions and testing methods, and the certainty of the evidence was low or very low. This means that testing provides a molecular diagnosis for a meaningful proportion of patients, but no individual should be promised a positive or definitive result.<\/p>\n<h2>Implications for Family Members<\/h2>\n<p>Because inherited retinal diseases (IRDs) are caused by genetic changes that can be passed through families, your test results may provide important information for your relatives as well. If testing identifies a pathogenic or likely pathogenic variant that explains your condition, genetic counselling can help determine whether targeted testing or clinical eye assessment may be appropriate for particular relatives.<\/p>\n<p>Testing should not automatically be offered to every family member. The recommendation depends on the inheritance pattern, the relative\u2019s age, whether symptoms are present and whether the result would provide useful health or reproductive information. A variant of uncertain significance should not usually be used for predictive testing in unaffected relatives.<\/p>\n<h2>Common Myths About Genetic Testing for Inherited Retinal Diseases<\/h2>\n<table>\n<thead>\n<tr>\n<td><strong>Myth<\/strong><\/td>\n<td><strong>Fact<\/strong><\/td>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>Genetic testing always identifies the cause of an inherited retinal disease<\/td>\n<td>Testing provides a molecular diagnosis for many people, but some results are negative or inconclusive because not every disease-causing variant can currently be identified or interpreted.<\/td>\n<\/tr>\n<tr>\n<td>A negative genetic test means you do not have an inherited retinal disease<\/td>\n<td>A negative result does not completely rule out an inherited retinal disease. The relevant variant may not be detectable using the test performed or may not yet be understood.<\/td>\n<\/tr>\n<tr>\n<td>A variant of uncertain significance confirms the diagnosis<\/td>\n<td>A variant of uncertain significance is not a confirmed disease-causing result. It should be interpreted alongside your retinal findings, symptoms, inheritance pattern and family history.<\/td>\n<\/tr>\n<tr>\n<td>Genetic testing can predict exactly how quickly your sight will deteriorate<\/td>\n<td>A confirmed result may provide information about the typical clinical pattern associated with a gene, but it cannot always predict your individual rate of progression or future level of vision.<\/td>\n<\/tr>\n<tr>\n<td>Everyone with an inherited retinal disease is eligible for gene therapy<\/td>\n<td>Most inherited retinal diseases do not currently have an approved gene-specific treatment. Eligibility for Luxturna is limited to selected people with confirmed biallelic RPE65-related disease and sufficient viable retinal cells.<\/td>\n<\/tr>\n<tr>\n<td>A genetic diagnosis guarantees entry into a clinical trial<\/td>\n<td>A molecular diagnosis may help with trial screening, but eligibility also depends on factors such as age, exact variants, retinal structure, remaining vision and the trial protocol.<\/td>\n<\/tr>\n<tr>\n<td>Every relative should be tested when a genetic change is found<\/td>\n<td>Family testing should be guided by genetic counselling and the inheritance pattern. Testing is usually most useful when a clearly relevant pathogenic or likely pathogenic familial variant has been identified.<\/td>\n<\/tr>\n<tr>\n<td>The broadest genetic test is always the best first test<\/td>\n<td>The most appropriate test depends on your retinal findings, suspected condition and inheritance pattern. In NHS England, testing follows specialist eligibility criteria and the National Genomic Test Directory.<\/td>\n<\/tr>\n<tr>\n<td>Genetic testing replaces a specialist eye examination<\/td>\n<td>Genetic results must be interpreted alongside retinal examination, imaging, visual testing, symptoms and family history. Testing complements clinical assessment rather than replacing it.<\/td>\n<\/tr>\n<tr>\n<td>Genetic testing itself can prevent further vision loss<\/td>\n<td>Testing does not directly protect or restore vision. It may clarify diagnosis, guide monitoring and identify whether treatment, rehabilitation or research opportunities should be considered.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><strong>Genetic Testing and Approved Gene Therapy<\/strong><\/p>\n<p>Genetic testing is essential when treatment eligibility depends on a confirmed molecular diagnosis. The principal licensed gene-therapy example in UK inherited-retinal-disease care is voretigene neparvovec, also known as Luxturna.<\/p>\n<p>NICE recommends this treatment for adults and children with vision loss caused by inherited retinal dystrophy from confirmed disease-causing variants in both copies of the RPE65 gene, provided that enough viable retinal cells remain. Suitability therefore depends on the genetic result, retinal structure, visual function and assessment by a highly specialised treatment service.<\/p>\n<p>Most people with inherited retinal diseases are not eligible for this treatment. Other gene-specific therapies remain under clinical investigation, so testing should not be presented as guaranteeing access to treatment.<\/p>\n<h2>Participation in Clinical Trials<\/h2>\n<p><img decoding=\"async\" class=\"alignnone wp-image-17150 size-full\" src=\"https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83.jpg\" alt=\"\" width=\"1100\" height=\"600\" srcset=\"https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-200x109.jpg 200w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-300x164.jpg 300w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-400x218.jpg 400w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-600x327.jpg 600w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-768x419.jpg 768w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-800x436.jpg 800w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83-1024x559.jpg 1024w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/05\/1-83.jpg 1100w\" sizes=\"(max-width: 1100px) 100vw, 1100px\" \/><\/p>\n<p>&nbsp;<\/p>\n<p>A confirmed molecular diagnosis may help your specialist identify clinical trials for which you could potentially meet the genetic criteria. However, a genetic result does not guarantee trial eligibility or direct medical benefit.<\/p>\n<p>Eligibility may also depend on factors such as your age, exact variants, retinal structure, remaining vision, previous treatments and the study\u2019s individual protocol. Many inherited-retinal-disease studies are early-phase trials designed primarily to assess safety, dose or feasibility. Your specialist should explain the study purpose, possible risks, alternatives, travel requirements and whether participation could affect eligibility for future studies or treatment.<\/p>\n<h2>Consent and Privacy Questions<\/h2>\n<p>Genetic testing should be based on informed consent. Before testing, you should understand why it is being offered, what types of results may be reported, how your sample and data will be used and whether unexpected findings could arise.<\/p>\n<p>You may also wish to discuss how a result could affect relatives and whether there may be circumstances in which relevant information should be shared with them. Your healthcare team can help you consider these questions without pressuring you to proceed. Ask your genetics team for individual advice if you have concerns about privacy, insurance or the practical implications of testing.<\/p>\n<h2>Access to Testing in the UK<\/h2>\n<p>In England, eligible genomic testing is commissioned through the NHS Genomic Medicine Service and delivered by Genomic Laboratory Hubs. The current National Genomic Test Directory sets out which tests are available, who meets the criteria and which specialists can request them.<\/p>\n<p>For unexplained retinal disease likely to have a monogenic cause, testing is generally considered after assessment by a consultant ophthalmologist with inherited-eye-disease expertise. Access and referral arrangements may differ across the UK.<\/p>\n<p>Private testing is also available, but the price, gene coverage, quality of counselling and arrangements for interpreting or confirming results can vary. Ask whether the laboratory is appropriately accredited and how clinically significant results will be confirmed and incorporated into your care.<\/p>\n<h2>Role of Eye Specialists<\/h2>\n<p>Your eye specialist plays an important role in helping you understand whether genetic testing is suitable for your condition. Ophthalmologists and retinal specialists can guide you through the process and explain how testing may support your diagnosis and future care.<\/p>\n<p>Genetic results need to be considered alongside your eye examination findings, symptoms and medical history. Your specialist can help interpret what the results mean for your vision, possible treatment options and ongoing management.<\/p>\n<p>Working with genetic counsellors can also provide you with additional support and information. This team-based approach helps you make informed decisions and ensures your care is personalised to your individual needs.<\/p>\n<p><strong>Current and Emerging Research<\/strong><\/p>\n<p>Research continues into gene replacement, RNA-based treatments, gene editing, cell-based approaches and treatments that may apply across more than one genetic form of retinal disease. Most of these approaches remain experimental and are available only through clinical studies.<\/p>\n<p>Researchers are also working to improve the interpretation of non-coding, structural and previously uncertain variants. This may help some people whose earlier testing did not provide a diagnosis.<\/p>\n<p>Because this field changes rapidly, discuss current treatment and trial opportunities with a specialist inherited-retinal-disease service rather than relying on older online information.<\/p>\n<h2>Long-Term Monitoring<\/h2>\n<p>If genetic testing confirms an inherited retinal disease, ongoing monitoring is an important part of your care. Regular eye appointments allow your specialist to track changes in your vision, assess disease progression and understand how your condition is developing over time.<\/p>\n<p>Follow-up visits can help identify when additional support, lifestyle adjustments or new treatment options may be helpful. As research continues, monitoring also allows your healthcare team to consider emerging therapies that may become available in the future.<\/p>\n<p>Follow-up visits allow your specialist to compare retinal imaging and visual function over time, manage complications and reconsider treatment, rehabilitation or research opportunities when relevant. Clinical information may contribute to research or a patient registry only under the relevant consent, governance and data-protection arrangements.<\/p>\n<h2>Patient Empowerment<\/h2>\n<p>Genetic testing may provide greater clarity about your diagnosis, inheritance pattern and the clinical features associated with a particular gene-related condition. It may not predict your individual rate of progression or future level of vision accurately.<\/p>\n<p>For families, genetic results can provide valuable information when making decisions about healthcare, lifestyle choices and family planning. Understanding the genetic cause of an inherited retinal condition may also help reduce uncertainty and answer important questions about the future.<\/p>\n<p>When you have clearer information about your condition, you can work more closely with your healthcare team and take a more active role in your care. Genetic testing is not just about finding a diagnosis; it is also about helping you understand your options and participate more fully in decisions about your care.<\/p>\n<h2>Integration with Routine Eye Care<\/h2>\n<p>Genetic testing is becoming an increasingly important part of comprehensive care for inherited retinal diseases. When you combine clinical assessments with eye imaging and genetic analysis, your healthcare team can gain a more complete understanding of your condition.<\/p>\n<p>This integrated approach may provide clearer information about the diagnosis, the clinical features associated with the gene-related condition and any relevant treatment, monitoring or research options. It also allows your specialist to offer guidance that is better tailored to your individual needs and circumstances.<\/p>\n<p>By including genetic testing alongside routine eye care, you can benefit from a more personalised approach to managing an inherited retinal condition. Working with your eye specialist ensures that the results are interpreted correctly and used to support an appropriate, individualised care plan.<\/p>\n<h2>When to Discuss Testing<\/h2>\n<p><img decoding=\"async\" class=\"alignnone wp-image-17605 size-full\" src=\"https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52.jpg\" alt=\"\" width=\"1100\" height=\"600\" srcset=\"https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-200x109.jpg 200w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-300x164.jpg 300w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-400x218.jpg 400w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-600x327.jpg 600w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-768x419.jpg 768w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-800x436.jpg 800w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52-1024x559.jpg 1024w, https:\/\/www.eyecliniclondon.com\/blog\/wp-content\/uploads\/2026\/06\/1-52.jpg 1100w\" sizes=\"(max-width: 1100px) 100vw, 1100px\" \/><\/p>\n<p>If you have been diagnosed with an inherited retinal condition, or your symptoms suggest that one may be present, it is worth discussing genetic testing with your eye specialist. Raising the topic early can help you understand whether testing is appropriate and what information it may provide.<\/p>\n<p>Having this conversation at the time of diagnosis can support earlier counselling, more informed treatment planning and, in some cases, access to clinical trials or emerging therapies. It also gives you the opportunity to ask questions about what the results could mean for you and your family.<\/p>\n<p>Your ophthalmologist or genetic specialist can explain the benefits and limitations of genetic testing and help you decide whether it is the right option. Working with an appropriately experienced ophthalmology and genetics team helps ensure that testing is selected, interpreted and communicated responsibly.<\/p>\n<h2>Key Takeaways<\/h2>\n<ul>\n<li>Genetic testing may confirm the molecular cause of an inherited retinal disease, but it does not provide an answer for everyone.<\/li>\n<li>A genetic result should be interpreted alongside retinal examination, imaging, visual testing and family history.<\/li>\n<li>A variant of uncertain significance is not a confirmed diagnosis.<\/li>\n<li>The result may inform inheritance counselling, monitoring and family testing.<\/li>\n<li>Genetic information does not always predict the individual rate of vision loss.<\/li>\n<li>In NHS England, testing follows the National Genomic Test Directory and specialist eligibility criteria.<\/li>\n<li>Luxturna is available only for selected people with confirmed biallelic RPE65-related disease and sufficient viable retinal cells.<\/li>\n<li>Most other gene-based treatments remain experimental.<\/li>\n<li>A molecular diagnosis may support trial screening but does not guarantee eligibility or benefit.<\/li>\n<\/ul>\n<h2>Frequently Asked Questions<\/h2>\n<ol>\n<li><strong> What is genetic testing for inherited retinal diseases?<br \/>\n<\/strong>Genetic testing analyses your DNA to identify gene changes that may be responsible for inherited retinal diseases such as retinitis pigmentosa, Stargardt disease or choroideremia. It may confirm or support a molecular diagnosis and provide information about the condition\u2019s inheritance and management.<\/li>\n<li><strong> Who should consider genetic testing for inherited retinal diseases?<br \/>\n<\/strong>Genetic testing may be recommended for people with suspected or confirmed inherited retinal diseases, those with a family history of inherited vision loss, children with unexplained retinal disorders, or people for whom a molecular diagnosis could affect treatment or clinical-trial screening.<\/li>\n<li><strong> Can genetic testing confirm the exact cause of my retinal condition?<br \/>\n<\/strong>Genetic testing identifies a likely molecular cause for many people with inherited retinal disease, but not everyone receives a definitive diagnosis. The result may be negative or uncertain, and it must be interpreted alongside the clinical findings.<\/li>\n<li><strong> How is genetic testing performed?<br \/>\n<\/strong>Testing commonly uses a blood or saliva sample, although the exact sample and method depend on the laboratory and test. The result should be interpreted by an appropriately experienced ophthalmic or genetics team.<\/li>\n<li><strong> How long does it take to receive genetic test results?<br \/>\n<\/strong>Turnaround times vary considerably according to the test, laboratory, urgency and whether additional analysis or family samples are required. Your clinical team should give you an approximate timeframe when the test is arranged.<\/li>\n<li><strong> Why is genetic counselling important before and after testing?<br \/>\n<\/strong>Genetic counselling helps you understand what the test may reveal, how the results could affect monitoring, treatment eligibility, family testing, reproductive decisions or other family members, and what the possible emotional and practical implications may be. It also provides support when interpreting complex or uncertain results.<\/li>\n<li><strong> Can genetic testing determine whether my children are at risk?<br \/>\n<\/strong>A confirmed pathogenic or likely pathogenic variant may help clarify the inheritance pattern and the chance that children or other relatives could inherit the condition or carry the variant. The risk depends on whether the condition is dominant, recessive, X-linked, mitochondrial or caused by a de novo change.<\/li>\n<li><strong> Does a negative genetic test mean I do not have an inherited retinal disease?<br \/>\n<\/strong>Not necessarily. A negative result does not completely rule out an inherited retinal disease. Some genetic changes may not yet be identifiable with current testing methods, and additional testing or future advances may provide further answers.<\/li>\n<li><strong> Can genetic testing help me access new treatments?<br \/>\n<\/strong>Genetic testing may be necessary for a gene-specific treatment or clinical trial. However, eligibility may also depend on your age, exact variants, remaining retinal cells, visual function and the study or treatment criteria. A result does not guarantee access.<\/li>\n<li><strong> Should family members also consider genetic testing?<br \/>\n<\/strong>Testing an unaffected relative should normally follow genetic counselling and use a clearly relevant familial pathogenic or likely pathogenic variant. A variant of uncertain significance should not usually be used for predictive family testing.<\/li>\n<\/ol>\n<h2>Final Thoughts: Making an Informed Decision About Genetic Testing<\/h2>\n<p>Genetic testing may help clarify the molecular cause of an inherited retinal disease, distinguish between conditions with similar appearances and provide useful information about inheritance, monitoring and potential treatment or research eligibility. However, testing does not provide a definitive result for everyone and may not predict your individual rate of vision loss.<\/p>\n<p>If you are concerned about changes in your vision or have been told that you may have an inherited retinal condition, <a href=\"https:\/\/www.eyecliniclondon.com\/dry-eye-treatment.html\">Eye Clinic London<\/a> can provide a specialist eye assessment and discuss whether referral for genomic testing or genetic counselling may be appropriate.<\/p>\n<h2>References:<\/h2>\n<ol>\n<li>NHS England Genomics Education Programme (2026) \u2018National Genomic Test Directory\u2019. GeNotes. Last reviewed 10 March 2026. Available at: <a href=\"https:\/\/www.genomicseducation.hee.nhs.uk\/genotes\/knowledge-hub\/the-national-genomic-test-directory\/\">https:\/\/www.genomicseducation.hee.nhs.uk\/genotes\/knowledge-hub\/the-national-genomic-test-directory\/<\/a><\/li>\n<li>NHS England (2026) Rare and inherited disease eligibility criteria. Version 9.1. Updated 20 May 2026. Available at: <a href=\"https:\/\/www.england.nhs.uk\/publication\/national-genomic-test-directories\/\">https:\/\/www.england.nhs.uk\/publication\/national-genomic-test-directories\/<\/a><\/li>\n<li>Britten-Jones, A.C., Gocuk, S.A., Goh, K.L., Huq, A., Edwards, T.L. and Ayton, L.N. (2023) \u2018The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis\u2019, American Journal of Ophthalmology, 249, pp. 57\u201373. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36592879\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/36592879\/<\/a><\/li>\n<li>Mustafi, D., Hisama, F.M., Huey, J. and Chao, J.R. (2022) \u2018The current state of genetic testing platforms for inherited retinal diseases\u2019, Ophthalmology Retina, 6(8), pp. 702\u2013710. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35307606\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/35307606\/<\/a><\/li>\n<li>National Institute for Health and Care Excellence (NICE) (2019) Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations. Highly specialised technologies guidance HST11. London: NICE. Available at: <a href=\"https:\/\/www.nice.org.uk\/guidance\/hst11\">https:\/\/www.nice.org.uk\/guidance\/hst11<\/a><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Inherited retinal diseases (IRDs) are a group of genetic conditions that can lead to gradual vision loss over time. Conditions such as retinitis pigmentosa, Stargardt disease and choroideremia may cause symptoms like difficulty seeing in low light, reduced peripheral vision or changes in your central vision. Understanding what is causing these changes can help you and your healthcare team plan the right approach to care. In the past, diagnosing IRDs mainly depended on eye examinations, symptoms and family history. Genetic<\/p>\n","protected":false},"author":33,"featured_media":16911,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-17936","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v21.4 (Yoast SEO v26.8) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Genetic Testing for Inherited Retinal Diseases<\/title>\n<meta name=\"description\" content=\"Discover who should consider genetic testing for inherited retinal diseases and how the results may influence diagnosis and treatment.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.eyecliniclondon.com\/blog\/genetic-testing-inherited-retinal-diseases\/\" 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