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Retinitis pigmentosa

recent advances and future directions in diagnosis and management

Fahim, Abigail

doi: 10.1097/MOP.0000000000000690
GENETICS: Edited by Nathaniel H. Robin

Purpose of review Retinitis pigmentosa is a group of genetically diverse inherited blinding disorders for which there are no treatments. Owing to recent advances in imaging technology, DNA sequencing, gene therapy, and stem cell biology, clinical trials have multiplied and the landscape is rapidly changing. This review provides a relevant and timely update of current trends and future directions for the diagnosis and management of this disease.

Recent findings This review will highlight the use of retinal imaging to measure progression of disease, next-generation sequencing for genetic diagnosis, the use of electronic retinal implants as well as noninvasive digital low-vision aids, and the current state of preclinical and clinical research with gene therapy and cell-based therapies.

Summary Retinitis pigmentosa has historically been an untreatable condition. Recent advances have allowed for limited improvement in visual outcomes for select patients. Retinal degenerative disease is on the cutting edge of regenerative medicine. Gene therapy and stem cell therapeutic strategies are currently under investigation and are expected to radically impact management of inherited retinal disease in the coming years.

Video abstract

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA

Correspondence to Abigail Fahim, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA. Tel: +1 734 936 8120; e-mail:

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