1.
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.
Hwang Sungsoon, Jeon Sohee, Yoon Je Moon, Woo Se Joon, Joo Kwangsic, Choi Yong Je et al.
Am J OphthalmolMar 20254 citationsCase Series
This study detailed RPGR-related X-linked RP in Koreans, finding age-specific progression and that truncating variants lead to worse vision, informing gene therapy targeting.