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- W4323073917 abstract "ABSTRACT PURPOSE Human mutations in the CRX transcription factor are associated with dominant retinopathies often with more severe macular changes. The CRX- mutant cat ( Rdy-A182d2 ) is the only animal model with the equivalent of the critical retinal region for high acuity vision, the macula. Heterozygous cats ( CRX Rdy/+ ) have a severe phenotype modeling Leber congenital amaurosis. This study reports the distinct ocular phenotype of homozygous cats ( CRX Rdy/Rdy ). METHODS Gene expression changes were assessed at both mRNA and protein levels. Changes in globe morphology and retinal structure were analyzed. RESULTS CRX Rdy/Rdy cats had high levels of mutant CRX mRNA and protein. The expression of photoreceptor target genes was severely impaired while there were variable effects on the expression of other transcription factors. The photoreceptor cells remained immature and failed to elaborate outer segments consistent with the lack of retinal function. The retinal layers displayed a progressive remodeling with cell loss but maintained overall retinal thickness due to gliosis. Rapid photoreceptor loss largely occurred in the macula-equivalent retinal region. The homozygous cats developed markedly increased ocular globe length. CONCLUSIONS The phenotype of CRX Rdy/Rdy cats was more severe compared to CRX Rdy/+ cats by several metrics. TRANSLATIONAL RELEVANCE The CRX -mutant cat is the only model for CRX -retinopathies with a macula-equivalent region. A prominent feature of the CRX Rdy/Rdy cat phenotype not detectable in homozygous mouse models, was the rapid degeneration of the macula-equivalent retinal region highlighting the value of this large animal model and its future importance in the testing of translational therapies aiming to restore vision." @default.
- W4323073917 created "2023-03-05" @default.
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- W4323073917 date "2023-03-02" @default.
- W4323073917 modified "2023-10-16" @default.
- W4323073917 title "Cat LCA-<i>CRX</i>model, homozygous for an antimorphic mutation has a unique phenotype" @default.
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- W4323073917 doi "https://doi.org/10.1101/2023.03.01.530650" @default.
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