Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.

João Pedro MarquesRosa PinheiroAna Luísa CarvalhoMiguel RaimundoMário SoaresPedro MeloJoaquim MurtaJorge SaraivaRufino Silva

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2022)

This study expands the genetic landscape of RPGR-associated disease by reporting 3 novel clinically significant variants. We have shown that clinically severe phenotypes are not uncommon among female carriers. Furthermore, we provide novel insights into pRNFL changes observed in RPGR heterozygotes that mimic what has been reported in male patients.

Keyphrases

optical coherence tomography
end stage renal disease
copy number
ejection fraction
chronic kidney disease
genome wide
peritoneal dialysis
diabetic retinopathy
optic nerve
early onset
emergency department
patient reported outcomes
gene expression
single cell
dna methylation
adverse drug