Inherited Retinal Diseases

Because IRDs are genetically heterogeneous and involve many pathogenic mechanisms, no single treatment modality is expected to apply to all patients. More than 50 major IRD subtypes and more than 300 distinct causative genes have been identified. Inherited retinal diseases are clinically and genetically diverse disorders that cause vision loss through abnormal retinal development, photoreceptor dysfunction, photoreceptor degeneration, or retinal pigment epithelium dysfunction. IRD-related vision loss reduces independence, lowers employment rates, increases economic burden, and can harm mental health. The estimated prevalence of IRDs is approximately 1 in 1,380 individuals. Approximately 2.7 billion people globally carry at least one IRD-associated mutation, but only about 5.5 million are expected to develop symptoms.