Gene therapy has shown potential in treating inherited retinal disease (IRD) by slowing vision loss and improving QOL. This has led to regulatory approval of one IRD gene therapy, with more in the pipeline. Studies suggest that early intervention with gene therapy is more effective than delaying treatment and allowing disease progression. For this reason, it is important to have a clear and comprehensive understanding of retinal imaging in some of the youngest patients diagnosed with IRD. To address this need, Lauren N. Ayton, B. Optom, PhD, GCOT, FAAO, and colleagues developed a review to analyze optical coherence tomography (OCT) in the pediatric population across eight diseases: Stargardt disease, Bests disease, Leber’s congenital amaurosis, choroideremia, RPGR related retinitis pigmentosa, Usher syndrome, X-linked retinoschisis, and Batten disease. The researchers published the review in Clinical and Experimental Optometry, and Dr. Ayton spoke with Physician’s Weekly (PW) to discuss the results. PW: Why did you feel this topic needed exploration? Dr. Ayton: We are at the precipice of a wave of emerging treatments for IRDs, which are the most common cause of blindness in workingaged adults. These treatments include gene therapies, stem cells, and other advanced therapeutics. A significant challenge with these trials is clinical trial design—ie, how do we best measure whether an intervention changes things for a patient? Imaging, particularly OCT, is a good structural measure of retinal health. However, many clinicians are unaware of the early OCT signs of IRDs. This review summarizes a breadth of work on OCT imaging in children with early IRD, as children are likely to be key targets for some treatments in the future. In short, we aim to communicate these imaging biomarkers for clinicians and researchers developing new treatments. What are the most important findings from your study? That IRDs are very diverse phenotypically! There are many different subtypes of IRDs, and diagnosing them can be challenging. Imaging is part of the picture, but we also advocate for genetic testing, which can identify the causative gene mutation in around 60% of patients. How can physicians incorporate these findings into practice? The main aim of this paper was to raise awareness of the different phenotypes and prognoses for children with IRDs. Primary care physicians will still need to refer to a retinal specialist or ophthalmologist, but hopefully, this paper will give them an understanding of the conditions and how to counsel the child and family accordingly once a diagnosis is made. What makes this issue particularly urgent in the healthcare landscape? The impending clinical trials and treatments for inherited retinal diseases. Currently, there is one gene therapy available for IRDs, but many more are on the horizon. What would you like future research to focus on? There is still much to learn about imaging in IRDs—our work on this continues! There are newer imaging modalities that we can explore. For example, we have a custom-built adaptive optics machine that can image individual cells in the retina of a living person— it’s pretty amazing! Is there anything else readers would benefit from knowing about your research? This study is part of a larger program of work called the VENTURE study. We are working on a registry that gathers vital information on people with IRD. We hope that the information collected will help to drive research into the most common cause of legal blindness in working-age people.
