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Retinitis pigmentosa

Last reviewed: 21 Oct 2024
Last updated: 21 Sep 2023

Summary

Definition

History and exam

Key diagnostic factors

  • positive family history
  • presence of an associated syndrome
  • decreased peripheral vision
  • night blindness
  • impaired dark adaptation
  • decreased central acuity
  • atrophy of retinal pigment epithelium
  • bone spicule pigmentation
Full details

Other diagnostic factors

  • waxy pale optic nerve
  • photopsias
  • refractive error
  • cataracts
  • retinal vascular attenuation
  • cystoid macular edema
  • vitreous cells
  • glare from bright lights
  • abnormal color vision
  • keratoconus
  • glaucoma
  • optic nerve head drusen
  • Coats-like retinopathy
  • Leber congenital amaurosis
Full details

Risk factors

  • family history
  • presence of an associated syndrome
Full details

Diagnostic tests

1st tests to order

  • assessment of visual acuity
  • full field perimetry
  • full field electroretinogram (ERG)
Full details

Tests to consider

  • elevated final dark-adapted threshold
  • optical coherence tomography (OCT)
  • genetic testing
  • adaptive optics imaging
  • wide-field fundus autofluorescence (FAF)
Full details

Emerging tests

  • whole exome sequencing

Treatment algorithm

ACUTE

all patients

Contributors

Authors

Mark E. Pennesi, MD, PhD
Mark E. Pennesi

Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Disclosures

MEP serves on the scientific advisory board and executive committee for the Foundation Fighting Blindness.

Paul Yang, MD, PhD
Paul Yang

Associate Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Disclosures

PY acted as a consultant for Applied Genetic Technologies Corp in 2019 and was paid for a meeting regarding XLRP gene therapy, for which there was no agreement to disseminate information.

Acknowledgements

Dr Mark E. Pennesi and Dr Paul Yang would like to gratefully acknowledge Dr Richard G. Weleber and Dr Peter J. Francis, previous contributors to this topic.

Disclosures

RGW has served as a consultant to Novartis, Pfizer, and Wellstat, is a member of the scientific advisory board for Applied Genetic Technologies Corp, and serves on the scientific advisory board for the Foundation Fighting Blindness (the relationship has been reviewed and managed by Oregon Health & Science University). RGW also reports having received grants and personal fees from the Foundation Fighting Blindness and Applied Genetic Technologies Corp, and other support from Sanofi-Fovea, all outside the submitted work. In addition, RGW has a patent (US patent 8,657,446, Method and apparatus for visual field monitoring, also known as Visual Field Monitoring and Analysis, or VFMA, which has not been issued). PJF declares that he has no competing interests.

Peer reviewers

Scott Fraser, MD, FRCS (Ed), FRCOphth

Consultant Ophthalmologist

Sunderland Eye Infirmary

Sunderland

UK

Disclosures

SF declares that he has no competing interests.

Elias Traboulsi, MD

Professor of Ophthalmology

Director

Center for Genetic Eye Diseases

Cole Eye Institute

Cleveland Clinic

Cleveland

OH

Disclosures

ET declares that he has no competing interests.

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