General pathophysiology in retinal degeneration

Katherine J. Wert, Jonathan H. Lin, Stephen H. Tsang

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations

Abstract

Retinal degeneration, including that seen in age-related macular degeneration and retinitis pigmentosa (RP), is the most common form of neural degenerative disease in the world. There is great genetic and allelic heterogeneity of the various retinal dystrophies. Classifications of these diseases can be ambiguous, as there are similar clinical presentations in retinal degenerations arising from different genetic mechanisms. As would be expected, alterations in the activity of the phototransduction cascade, such as changes affecting the renewal and shedding of the photoreceptor OS, visual transduction, and/ or retinol metabolism have a great impact on the health of the retina. Mutations within any of the molecules responsible for these visual processes cause several types of retinal and retinal pigment epithelium degenerative diseases. Apoptosis has been implicated in the rod cell loss seen in a mouse model of RP, but the precise mechanisms that connect the activation of these pathways to the loss of phosphodiesterase (PDE6β) function has yet to be defined. Additionally, the activation of apoptosis by CCAAT/-enhancer-binding protein homologous protein (CHOP), after activation of the unfolded protein response pathway, may be responsible for cell death, although the mechanism remains unknown. However, the mechanisms of cell death after loss of function of PDE6, which is a commonly studied mammalian model in research, may be generalizable to loss of function of different key proteins involved in the phototransduction cascade.

Original languageEnglish (US)
Title of host publicationCell-Based Therapy for Retinal Degenerative Disease
PublisherS. Karger AG
Pages33-43
Number of pages11
Volume53
ISBN (Electronic)9783318025859
ISBN (Print)9783318025842
DOIs
StatePublished - Apr 22 2014
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Wert, K. J., Lin, J. H., & Tsang, S. H. (2014). General pathophysiology in retinal degeneration. In Cell-Based Therapy for Retinal Degenerative Disease (Vol. 53, pp. 33-43). S. Karger AG. https://doi.org/10.1159/000357294