Genotype-phenotype correlations in RPGRIP1-associated retinal dystrophy in a nationwide Japanese cohort
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The authors aimed to investigate genotype-phenotype correlations in patients with RPGRIP1-associated retinal dystrophy within a nationwide Japanese cohort. Their findings revealed distinct clinical phenotypes—Leber congenital amaurosis (LCA) and achromatopsia (ACHM)—associated with specific genetic variants, particularly the prevalent exon 18 deletion. These results enhance understanding of the disease's clinical spectrum and have implications for diagnosis and treatment strategies.
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