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Article

Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.

Investigative ophthalmology & visual science - 3 Aug 2026

Abdalla Elsayed Maram E A, Mahroo Omar A, Webster Andrew, Tsang Stephen H, Marques João Pedro, Traboulsi Elias, Tan Tien-En, Boon Camiel J F, de la Camara Cristina Martinez-Fernandez, Fenner Beau J, Barone Vincenzo, Dollfus Hélène, MacLaren Robert E

Abstract excerpt

Purpose: RPGRORF15-associated retinal degeneration is characterized by clinical and genetic heterogeneity: Proximal mutations typically result in rod-cone dystrophy, distal mutations in cone-dominated disease, and mutations within open-reading frame 15 (ORF15) in either phenotype. This study characterizes an intermediate phenotype in which patients exhibit a combination of cone dystrophy and incomplete (sectoral)...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42573183
DOI: 10.1167/iovs.67.10.24
PMCID: PMC13480021

Genes

RPGR
TTLL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.PMID 42573183Read ↗

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RPGR mutation analysis and disease: an update.Semantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.Semantic proximity Read ↗

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