Inherited Retinal Degenerations
Inherited retinal degenerations (IRDs) are a genetically and clinically diverse group of disorders characterized by progressive dysfunction and loss of photoreceptor cells, leading to vision impairment and blindness. IRDs affect approximately 1 in 3,000 to 4,000 individuals worldwide and include conditions such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt disease. Gene therapy, neuroprotection, and cell-based therapies are actively being developed to treat these conditions, driving demand for well-characterized preclinical models.
Model Overview
EyeCRO maintains internal colonies of numerous transgenic and knockout mouse and rat lines for the study of inherited retinal degenerations (IRDs). Each line models a specific genetic mutation associated with human retinal disease.
Transgenic Models Available
| Model | Gene / Mutation | Human Disease |
|---|---|---|
| Pde6b (rd1, rd10) | Phosphodiesterase 6B | Retinitis pigmentosa |
| Rds/Prph2 | Peripherin-2 | Retinitis pigmentosa, macular dystrophy |
| RPE65 | RPE65 | Leber congenital amaurosis |
| CEP290 | Centrosomal protein 290 | Leber congenital amaurosis, Senior-Loken syndrome |
| Abca4-/- | ATP-binding cassette A4 | Stargardt disease |
| Rdh8-/- | Retinol dehydrogenase 8 | Retinal degeneration |
| Rhodopsin P23H rat | Rhodopsin | Autosomal dominant retinitis pigmentosa |
| RCS rat | Mertk | Retinitis pigmentosa |
These models recapitulate key features of human Inherited Retinal Diseases (IRDs), including progressive photoreceptor degeneration and loss of visual function. Longitudinal study designs utilizing non-invasive techniques such as Electroretinography (ERG), optokinetic tracking (OKT), Optical coherence tomography (OCT), and fundus imaging allow for elegant long-term experiments to evaluate the therapeutic potential and durability of candidate treatments.
Typical Endpoints
- Electroretinography (ERG): scotopic and photopic responses
- Optical coherence tomography (OCT): retinal layer thickness over time
- Optokinetic tracking (OKT): visual acuity and contrast sensitivity
- Fundus imaging
- Histology: photoreceptor counts, outer nuclear layer thickness
- Gene and protein expression analysis
Representative Data
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