Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis

Pignatelli, Vincenzo, Cepko, Constance Louise and Strettoi, Enrica (2004) Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis. Journal of Comparative Neurology, 469 3: 351-359. doi:10.1002/cne.11019

Author Pignatelli, Vincenzo
Cepko, Constance Louise
Strettoi, Enrica
Title Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis
Journal name Journal of Comparative Neurology   Check publisher's open access policy
ISSN 0021-9967
Publication date 2004-02-09
Sub-type Article (original research)
DOI 10.1002/cne.11019
Volume 469
Issue 3
Start page 351
End page 359
Total pages 9
Place of publication Hoboken, NJ, U.S.A.
Publisher John Wiley & Sons
Language eng
Subject 0603 Evolutionary Biology
1109 Neurosciences
Formatted abstract
Leber's congenital amaurosis (LCA) is the earliest and most severe form in the world of genetic retinal dystrophy causing blindness. An animal model of LCA was recently created in which the cone-rod homeobox (crx) gene was disrupted using homologous recombination. Crx-/- mice display abnormal development of photoreceptors followed by their degeneration. We analyzed the morphology of inner retinal cells in crx-/- mice in order to evaluate the effects of abnormal photoreceptor development and death upon other retinal neurons. The identification of a time window during which inner retinal cells are still viable could be very important in view of the possibilities that photoreceptor transplantation or gene therapy might be used to restore vision in LCA. We used a combination of immunocytochemical and confocal microscopy techniques to screen the crx-/- inner retina and verify its morphological integrity after photoreceptor degeneration. We found significant morphological alterations in second-order neurons in crx-/- animals. The appearance of mutant retinas after photoreceptor death is indistinguishable from that of the retinal degeneration (rd/rd) mouse, a different genetic model of a retinal disease characterized by photoreceptor degeneration. However, at early stages of photoreceptor degeneration the morphology of retinal cells in the crx-/- mutant is considerably well preserved. It is likely that different genetic mechanisms that cause abnormal photoreceptor development and/or degeneration lead to a common pathway that determines second-order neuron modifications. The severity of modifications is linked to the timing of onset of the degeneration and appears to increase with time.
© 2004 Wiley-Liss, Inc.
Keyword Retina
Horizontal cell
Bipolar cell
Retinitis pigmentosa
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
Queensland Brain Institute Publications
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Created: Tue, 20 Apr 2010, 10:51:03 EST by Jon Swabey on behalf of Queensland Brain Institute