Related Experiment Video
Updated: Apr 3, 2026
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
Published on: July 24, 2020
Animal modelling for inherited central vision loss
Corinne Kostic1, Yvan Arsenijevic1
1Unit of Gene Therapy and Stem Cell Biology, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Switzerland.
Abstract:
Disease-causing variants of a large number of genes trigger inherited retinal degeneration leading to photoreceptor loss. Because cones are essential for daylight and central vision such as reading, mobility, and face recognition, this review focuses on a variety of animal models for cone diseases. The pertinence of using these models to reveal genotype/phenotype correlations and to evaluate new therapeutic strategies is discussed. Interestingly, several large animal models recapitulate human diseases and can serve as a strong base from which to study the biology of disease and to assess the scale-up of new therapies. Examples of innovative approaches will be presented such as lentiviral-based transgenesis in pigs and adeno-associated virus (AAV)-gene transfer into the monkey eye to investigate the neural circuitry plasticity of the visual system. The models reported herein permit the exploration of common mechanisms that exist between different species and the identification and highlighting of pathways that may be specific to primates, including humans.
Insights
Animal models are crucial for understanding inherited retinal diseases affecting cone cells. These models help study disease mechanisms and test new therapies for vision loss.
Area of Science:
- Genetics
- Ophthalmology
- Animal Models
Background:
- Inherited retinal degeneration causes photoreceptor loss due to gene variants.
- Cone cells are vital for central vision, impacting daily activities like reading and recognition.
Purpose of the Study:
- To review animal models for cone diseases.
- To discuss their utility in understanding genotype/phenotype correlations.
- To evaluate novel therapeutic strategies for inherited retinal degeneration.
Main Methods:
- Focus on animal models, including large animals that recapitulate human diseases.
- Discuss innovative approaches like lentiviral transgenesis in pigs.
- Highlight adeno-associated virus (AAV)-gene transfer in primates for neural plasticity studies.
Main Results:
- Animal models facilitate the study of disease biology and therapy scale-up.
- Large animal models offer relevant platforms for human disease research.
- Primate models allow investigation of species-specific pathways.
Conclusions:
- Animal models are essential for advancing research into inherited retinal diseases.
- These models enable the exploration of conserved and primate-specific disease mechanisms.
- They are critical for developing and validating future therapies for vision restoration.
