Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report

These cases highlight the importance of genetic testing in patients with combined retinitis pigmentosa and sensorineural deafness. Early identification of the underlying genetic mutation can facilitate appropriate management and genetic counseling for affected individuals and their families. Further research is needed to explore the pathophysiological mechanisms and potential therapeutic targets for <i>DHX16</i>-related disorders.