Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Yuliya Markitantova, Vladimir Simirskii

International journal of molecular sciences 2020 Feb 26

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Retinal development is under the coordinated control of overlapping networks of signaling pathways and transcription factors. The paper was conceived as a review of the data and ideas that have been formed to date on homeobox genes mutations that lead to the disruption of eye organogenesis and result in inherited eye/retinal diseases. Many of these diseases are part of the same clinical spectrum and have high genetic heterogeneity with already identified associated genes. We summarize the known key regulators of eye development, with a focus on the homeobox genes associated with monogenic eye diseases showing retinal manifestations. Recent advances in the field of genetics and high-throughput next-generation sequencing technologies, including single-cell transcriptome analysis have allowed for deepening of knowledge of the genetic basis of inherited retinal diseases (IRDs), as well as improve their diagnostics. We highlight some promising avenues of research involving molecular-genetic and cell-technology approaches that can be effective for IRDs therapy. The most promising neuroprotective strategies are aimed at mobilizing the endogenous cellular reserve of the retina.

Citation

Yuliya Markitantova, Vladimir Simirskii. Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes. International journal of molecular sciences. 2020 Feb 26;21(5)