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.
Wang N, Mahajan VB, Tsang SH. Therapeutic Window for Phosphodiesterase 6–Related Retinitis Pigmentosa. JAMA Ophthalmol. 2019;137(6):679–680. doi:10.1001/jamaophthalmol.2018.6381
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