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Article

Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.

Translational vision science & technology - 1 Aug 2024

Choi Seung Woo, Woo Se Joon, Kim Minji, Lee Sejoon, Joo Kwangsic

Abstract excerpt

Purpose: Homozygous hypomorphic variants of the RP1 gene, including c.5797C>T, p.Arg1933Ter, have traditionally been considered non-pathogenic. This study aimed to elucidate the clinical manifestations of late-onset, slowly progressive cone/macular dystrophy in patients homozygous for p.Arg1933Ter in the RP1 gene. Methods: Five patients with biallelic p.Arg1933Ter in RP1 were retrospectively recruited, and their...

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Identifiers

PMID: 39087930
DOI: 10.1167/tvst.13.8.2
PMCID: PMC11305420

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