General pathophysiology in retinal degeneration

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

Research output: Contribution to journalArticle

27 Citations (Scopus)

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)
Pages (from-to)33-43
Number of pages11
JournalDevelopments in Ophthalmology
Volume53
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

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Retinal Degeneration
Light Signal Transduction
Retinitis Pigmentosa
Type 6 Cyclic Nucleotide Phosphodiesterases
Cell Death
Retinal Dystrophies
CCAAT-Enhancer-Binding Proteins
Apoptosis
Unfolded Protein Response
Genetic Heterogeneity
Retinal Pigment Epithelium
Macular Degeneration
Vitamin A
Retina
Proteins
Mutation
Health
Research

ASJC Scopus subject areas

  • Ophthalmology

Cite this

General pathophysiology in retinal degeneration. / Wert, Katherine J.; Lin, Jonathan H.; Tsang, Stephen H.

In: Developments in Ophthalmology, Vol. 53, 01.01.2014, p. 33-43.

Research output: Contribution to journalArticle

Wert, Katherine J. ; Lin, Jonathan H. ; Tsang, Stephen H. / General pathophysiology in retinal degeneration. In: Developments in Ophthalmology. 2014 ; Vol. 53. pp. 33-43.
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