Inherited retinal diseases (IRDs) consist of a broad range of genetically and phenotypically heterogeneous retinal disorders. Four major types of IRDs have been identified: rod-cone degenerations, cone-rod degenerations, chorioretinal degenerations, and inherited macular dystrophies. Globally, more than 2 million people are affected by IRDs, which are the leading cause of vision loss in the working-age population. In IRDs, genetic mutations lead to the death of photoreceptor cells or retinal ganglion cells, resulting in progressive, often severe vision loss.
Patients affected with retinitis pigmentosa and choroideremia often experience gradual loss of night vision and may also develop tunnel vision. Others, with Leber congenital amaurosis, may be born with or experience the early onset of vision loss. Patients with X-linked juvenile retinoschisis are commonly observed to present with early-onset macular degeneration, loss in visual acuity, and the splitting of retinal layers.
Advances in knowledge of the genes that contribute to IRDs are enabling more accurate diagnoses and helping to usher in the development of treatments to halt the disease and possibly even restore some vision.
How familiar are you with IRDs? Test your knowledge with this quick quiz.
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Cite this: Raj K. Maturi. Fast Five Quiz: Inherited Retinal Diseases - Medscape - Mar 31, 2023.