Abstract

Inherited retinal diseases (IRDs) represent a group of both genetically and phenotypically heterogenous diseases caused by genetic mutations that lead to retinal degeneration and progressive vision loss, making them a leading cause of early-onset blindness. Significant advances have occurred in the development of potential treatments to slow, preserve, and even reverse vision loss associated with IRDs. This has shifted the treatment paradigm where patients with suspected IRDs can benefit from early diagnosis and genetic testing. This chapter highlights IRDS with significant macular involvement, choroidal involvement, and hereditary vitreoretinopathies.

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