Retinitis pigmentosa refers to a diverse group of hereditary diseases that lead to incurable blindness, affecting two million people worldwide. As a common pathology, rod photoreceptors die early, whereas light-insensitive, morphologically altered cone photoreceptors persist longer. It is unknown if these cones are accessible for therapeutic intervention. Here, we show that expression of archaebacterial halorhodopsin in light-insensitive cones can substitute for the native phototransduction cascade and restore light sensitivity in mouse models of retinitis pigmentosa. Resensitized photoreceptors activate all retinal cone pathways, drive sophisticated retinal circuit functions (including directional selectivity), activate cortical circuits, and mediate visually guided behaviors. Using human ex vivo retinas, we show that halorhodopsin can reactivate light-insensitive human photoreceptors. Finally, we identified blind patients with persisting, light-insensitive cones for potential halorhodopsin-based therapy.

https://science.sciencemag.org/content/sci/329/5990/413.full.pdf

Genetic Reactivation of Cone Photoreceptors Restores Visual Responses in Retinitis Pigmentosa

The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal degeneration due to PR cell death--which occurs in conditions such as retinitis pigmentosa and age-related macular degeneration--are being successfully dissected. Over one hundred loci, some containing common variants but most containing rare variants, are implicated in the genetic architecture of this complex trait. This genetic heterogeneity results in equally diverse disease mechanisms that affect almost every aspect of PR function but converge on a common cell death pathway. Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise.

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

Retinal light damage: mechanisms and protection.

Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis.

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy

https://www.hal.inserm.fr/docs/00/46/45/12/PDF/Yang_et_al_2009_HAL.pdf

Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa.

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Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa.