Inherited retinal diseases are degenerative eye diseases that cause progressive vision loss. They can potentially lead to complete blindness and severely impact a patient’s quality of life. These diseases often begin at an early age and are caused by genetic mutations in more than 300 genes. Restoring function to retinal cells by delivery of a functional gene via gene therapy is one of the most promising treatment options for inherited retinal diseases. However, successful treatment is most effective when retinal diseases are diagnosed during the early stages, for example using optical coherence tomography (OCT), also known as ocular imaging.
Based on a literature search, it was determined that the most common inherited retinal diseases can be categorized into eight main pathologies: Stargardt disease, Leber’s congenital amaurosis, Betts disease, retinitis pigmentosa, choroideremia, Usher syndrome, X-linked retinoschisis, and Batten disease. All eight pathologies display retinal changes that are visible even in children using OCT imaging. Adoption of OCT imaging as part of standard eye care for children may lead to earlier detection and diagnosis, and potential treatment of inherited retinal diseases.
What this means for Usher syndrome: Early detection and diagnosis of inherited retinal diseases such as Usher syndrome can lead to earlier treatment and potentially better results. USH patients may enjoy a better quality of life, while researchers and clinicians gain valuable insights into the disease etiology, which may lead to new discoveries for new treatment options.
