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Article

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.

JAMA ophthalmology - 1 Nov 2020

Cehajic-Kapetanovic Jasmina, McClements Michelle E, Whitfield Jennifer, Shanks Morag, Clouston Penny, MacLaren Robert E

Abstract excerpt

Importance: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. Objective: To investigate an X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice site RPGR c.779-5T>G variant. Design, Setting, and...

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Identifiers

PMID: 32970112
DOI: 10.1001/jamaophthalmol.2020.3634
PMCID: PMC7516822

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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