Cone photoreceptor cell death mechanisms in inherited retinal diseases

Cone photoreceptor cell death mechanisms in inherited retinal diseases

Inherited retinal diseases (IRDs) are a major contributor to early onset blindness worldwide. Currently there is no definite treatment to cure or delay disease progression and restore vision, leaving patients with a poor visual prognosis. Amongst the different neuronal cell types in the retina, the photoreceptor cells are not only critically important for light detection, but are one of the main targets for mutations leading to IRD. Of the two types of photoreceptors, the rods and cones, the latter are critical for some of the most essential aspects of vision that include colour detection, high acuity vision and fine processing.

The loss of cone-mediated central vision in IRD is related to either primary or secondary cone death depending on whether the mutation is present in a cone- or rod-specific gene, respectively. We are interested in studying the pathological pathways behind primary and secondary cone cell death, with the aim to uncover the common and differential factors involved in each. Our ultimate goal is to identify novel disease markers and potential therapeutic targets.

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