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Article

Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy.

JAMA ophthalmology - 1 Feb 2026

Raji Shabnam, MacLaren Robert Edward, Charbel Issa Peter, Cehajic-Kapetanovic Jasmina

Abstract excerpt

Importance: Recent insights into impaired glutamylation caused by distal truncating variants in RPGR ORF15 and its association with the cone-dominated phenotype have provided the first molecular evidence of a genotype-phenotype correlation in male individuals with X-linked RPGR-related retinal dystrophy, though this correlation remains unexplored in female carriers. Objective: To characterize the clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41481301
DOI: 10.1001/jamaophthalmol.2025.5492
PMCID: PMC12761763

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy.PMID 41481301Read ↗

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Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15.Semantic proximity Read ↗

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