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Updated: Mar 22, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
Published on: January 16, 2019
Endoplasmic reticulum stress in human photoreceptor diseases
Priscilla Chan1, Julia Stolz2, Susanne Kohl2
1Pathology, University of California, San Diego, La Jolla, CA, United States.
Abstract:
Photoreceptors are specialized sensory neurons essential for light detection in the human eye. Photoreceptor cell dysfunction and death cause vision loss in many eye diseases such as retinitis pigmentosa and achromatopsia. Endoplasmic reticulum (ER) stress and Unfolded Protein Response (UPR) signaling have been implicated in the development and pathology of heritable forms of retinitis pigmentosa and achromatopsia. We review the role of ER stress and UPR in retinitis pigmentosa arising from misfolded rhodopsins (RHO) and in achromatopsia arising from genetic mutations in Activating Transcription Factor 6 (ATF6). This article is part of a Special Issue entitled SI:ER stress.
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