Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
Marques João Pedro, Pinheiro Rosa, Carvalho Ana Luísa, Raimundo Miguel, Soares Mário, Melo Pedro et al.
This study of female RPGR carriers found severe retinal phenotypes are common and temporal pRNFL thickening correlates with advanced disease, expanding understanding of RPGR-associated retinal degeneration in women.