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Invited Commentary
April 18, 2019

Therapeutic Window for Phosphodiesterase 6–Related Retinitis Pigmentosa

Author Affiliations
  • 1Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology and Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York
  • 2Electrodiagnostic Services, New York-Presbyterian Hospital, New York
  • 3Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California
  • 4Palo Alto Veterans Administration, Palo Alto, California
  • 5Omics Laboratory, Stanford University, Palo Alto, California
  • 6Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California
  • 7Department of Neurology, University of Iowa, Iowa City
JAMA Ophthalmol. 2019;137(6):679-680. doi:10.1001/jamaophthalmol.2018.6381

In this issue of JAMA Ophthalmology, Khateb et al1 fill a key knowledge gap by providing a comprehensive retrospective analysis of retinitis pigmentosa (RP) disease progression over time in a large cohort of 54 patients with either PDE6A or PDE6B mutations. Their findings revealed 29 novel PDE6A and PDE6B variants among 49 that were identified. Using a wide range of variables as outcome measures—including multimodal retinal imaging, best-corrected visual acuity, full-field electroretinography, and kinetic visual fields—in some cases with more than 15 years of follow-up, Khateb et al1 found similar rates of disease progression between both genetic groups, although nyctalopia was a more prevalent symptom in patients with PDE6A.

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