Through genetic testing, we identified 18 novel RPGR variants, of which 9 were determined to be pathogenic or likely pathogenic. RPGR variants were not a significant cause of retinal dystrophy in South Asians. Female RPGR carriers with visual deficits are likely to be a significant cohort for future RPGR gene therapy trials or treatment modalities.
Patel et al. (Mon,) studied this question.