Rhodopsin (RHO) (RHO)

Rhodopsin is a light-sensitive G protein-coupled receptor (GPCR) found in the rod photoreceptor cells of the retina, where it is essential for vision in dim light (UniProt: P08100). It consists of the protein opsin linked to a light-absorbing chromophore, 11-cis-retinal; upon light absorption, it triggers the phototransduction cascade that converts light into electrical signals for the brain (PubMed: 2566208). Mutations in the RHO gene are a primary cause of Retinitis Pigmentosa, a group of inherited disorders characterized by progressive retinal degeneration and vision loss (NIH: MedlinePlus). Current therapeutic approaches, such as those utilizing the AAV.7m8 vector, focus on delivering a healthy RHO gene directly to retinal cells to restore function or slow disease progression (Dalkara et al., Sci Transl Med, 2013). These gene therapies, including candidates like 4D-125, aim to overcome the limitations of traditional treatments by providing long-term expression of functional rhodopsin within the target tissue (4D Molecular Therapeutics). The AAV.7m8 vector is specifically engineered to penetrate the retina more effectively than standard AAV vectors when administered via intravitreal injection (PubMed: 23345431). This approach targets the underlying genetic cause of the disease rather than just managing symptoms. Clinical monitoring of these therapies involves assessing retinal structure and visual function through various imaging and electrophysiological techniques.

Other names

Opsin-2Rod visual pigmentRHORP4

Gene replacement therapy providing a functional copy of the RHO gene to restore rhodopsin protein levels in rod photoreceptors.