Progressive age-related changes similar to age-related macular degeneration in a transgenic mouse model

Piroska Elizabeth Rakoczy*, Dan Zhang, Terry Robertson, Nigel L. Barnett, John Papadimitriou, Ian Jeffrey Constable, Chooi May Lai

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

149 Citations (Scopus)

Abstract

Age-related macular degeneration (AMD) is the major cause of blindness in the developed world. Its pathomechanism is unknown and its late onset, complex genetics and strong environmental components have all hampered investigations. Here we demonstrate the development of an animal model for AMD that reproduces features associated with geographic atrophy; a transgenic mouse line (mcd/mcd) expressing a mutated form of cathepsin D that is enzymatically inactive thus impairing processing of phagocytosed photoreceptor outer segments in the retinal pigment epithelial (RPE) cells. Pigmentary changes indicating RPE cell atrophy and a decreased response to flash electroretinograms were observed in 11- to 12-month-old mcd/mcd mice. Histological studies showed RPE cell proliferation, photoreceptor degeneration, shortening of photoreceptor outer segments, and accumulation of immunoreactive photoreceptor break-down products in the RPE cells. An accelerated photoreceptor cell death was detected in 12-month-old mcd/mcd mice. Transmission electron microscopy demonstrated presence of basal laminar and linear deposits that are considered to be the hallmarks of AMD. Small hard drusen associated with human age-related maculopathy were absent in the mcd/mcd mouse model at the ages analyzed. In summary, this model presents several features of AMD, thus providing a valuable tool for investigating the underlying biological processes and pathomechanism of AMD.

Original languageEnglish
Pages (from-to)1515-1524
Number of pages10
JournalAmerican Journal of Pathology
Volume161
Issue number4
DOIs
Publication statusPublished - 1 Oct 2002
Externally publishedYes

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