Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies.
OBJECTIVE
We performed a comprehensive in vivo assessment of retinal morphology and function in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease process in this model of cone dystrophies.


METHODS
Mice were examined using electroretinography (ERG), confocal scanning laser ophthalmoscopy (cSLO), and spectral domain optical coherence tomography (SD-OCT). Cross-breeding cpfl1 mutants with mice expressing green fluorescent protein (GFP) under control of red-green cone opsin promoter allowed for an in vivo timeline analysis of number and distribution of cone photoreceptors using the autofluorescence (AF) mode of the cSLO.


RESULTS
Light-evoked responses of cone origin were practically absent in cpfl1 mice, whereas rod system function appeared normal. In vivo imaging revealed a progressive loss of cone photoreceptors with a major decline between PW4 and PW8, while retinal architecture and layering remained essentially intact.


CONCLUSIONS
While the absence of substantial light-evoked cone responses in the cpfl1 mice is evident from early on, the course of physical cone degeneration is protracted and has a major drop between PW4 and PW8. However, these changes do not lead to significant alterations in retinal architecture, probably due to the relatively low number and wide dissemination of cone photoreceptor cells within the afoveate mouse retina.
University of Tuebingen, Schleichstr. 12-16, Tuebingen, Germany. dominik.fischer@med.uni-tuebingen.de
M Dominik
MD
Fischer
Naoyuki
N
Tanimoto
Susanne C
SC
Beck
Gesine
G
Huber
Karin
K
Schaeferhoff
Stylianos
S
Michalakis
Olaf
O
Riess
Bernd
B
Wissinger
Martin
M
Biel
Michael
M
Bonin
Mathias W
MW
Seeliger
D000818:Animals; D004195:Disease Models, Animal; D004596:Electroretinography; D005136:Eye Proteins / Q000378:metabolism*; D049452:Green Fluorescent Proteins / Q000378:metabolism; D021621:Imaging, Three-Dimensional; D051379:Mice; D008817:Mice, Mutant Strains; D010641:Phenotype; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D013329:Structure-Activity Relationship; D013997:Time Factors
D005136:Eye Proteins; D049452:Green Fluorescent Proteins