Inherited retinal diseases (IRD) are both uncommon, as well as diverse, in how they affect a patient’s vision. Advances in genetics have greatly expanded our understanding of what causes these conditions. Specialized training and experience with these rare diseases is of value to patients and their families.
Colorado Retina is a tertiary referral center for patients with these rare and complex diseases, evaluating and diagnosing patients from Colorado and surrounding states. Recent advances in genetic testing increasingly provide new information regarding which of more than 270 genes could be responsible for vision loss. The scientific advances in genomics led to the very first FDA-approved gene therapy for an inherited retinal disease (Leber’s congenital amaurosis, RPE65 gene) in December 2017. Subsequently, dozens of other gene therapy trials were designed and are currently underway. Cell-based therapies (stem cells) and implantable, electronic retinal prosthesis comprise other areas of intensive research. Advances in inherited retinal diseases now inform exciting new therapies for more common eye diseases, such as both the dry and wet forms of age-related macular degeneration.