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Inherited retinal diseases (IRDs) represent a genetically diverse and clinically intricate category of retinal and macular dystrophies, resulting from pathogenic variants in more than 277 identified genes. It was estimated that approximately 5.5 million individuals are affected by autosomal recessive IRD globally. IRDs are considered highly heterogeneous, exhibiting considerable variability in clinical manifestation, such as age at onset, rate of progression, and the relative involvement of cone vs rod photoreceptors. Accurate determination of genetic etiology based solely on clinical phenotype is challenging. Determining genetic diagnosis is important for informed family planning, assessing prognosis, and fitting gene-specific clinical trials and treatments. Advances in molecular genetic technologies have significantly enhanced the ability to identify the underlying causative genes, with a genetic cause identified in approximately 50% to 70% of studied cases. However, many individuals with IRDs remain without a confirmed genetic diagnosis.

