Research identifies novel RPGR variants in patients, suggesting potential for targeted gene therapy trials.
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.
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Patel et al. (2026) studied this question.
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