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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.