DELETION INVOLVING EXON 18 OF RPGRIP1 IS a MAJOR CAUSE OF ACHROMATOPSIA.

Retina · 2026 · PMC13196858 · PMID 41666299

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a nonsignificant trendno p-value reported

The OCT grades, although not significantly different overall ( P = 0.07), showed a nonsignificant trend with RPGRIP1, most often Grade 2 (focal EZ interruption; 8/12, 66.7%), whereas PDE6C included relatively more advanced grades (e.g., Grade 5 with outer retinal atrophy with RPE loss; 4/15, 26.7%).

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