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Wheaton Dianna K H

2 articles in GJC

2 articles in GJC

1.

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

Fahim Abigail T, Sullivan Lori S, Bowne Sara J, Jones Kaylie D, Wheaton Dianna K H, Khan Naheed W et al.

Ophthalmol RetinaNov 201948 citationsCohort Study

This study found that skewed X-chromosome inactivation (XCI) in female RPGR carriers correlates with more severe vision loss, suggesting XCI ratio is a biomarker for identifying those needing early intervention.

2.

Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.

Birch David G, Locke Kirsten G, Felius Joost, Klein Martin, Wheaton Dianna K H, Hoffman Dennis R et al.

OphthalmologyDec 201470 citationsObservational Study

XLRP patients with RPGR mutations show faster visual field decline (0.84-0.92 dB/year) at the ellipsoid zone edge than in the macula or mid-periphery (0.38-0.61 dB/year), marking a critical transition zone for monitoring disease progression.

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