RHO
Disease Category: autosomal dominant
Patient Population: unknown
Active Clinical Trials: 3 recruiting
Treatment Options: None known
Strategies to Preserve Eye Health: None known
Institution(s) Conducting Research: University of Michigan, UPMC Eye Center Pittsburgh, UCSD, ue Anschutz-Rogers Eye Center, University of Colorado, Duke Eye Center,
A FACE OF RP
Michael
Naugatuck, CT
BRIEF DESCRIPTION
Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary disease that causes a gradual loss of vision in the retina. It's caused by mutations in the rhodopsin (RHO) gene, which encodes a light-sensitive protein that helps with vision in dim light. RHO-adRP is the most common type of autosomal dominant retinitis pigmentosa (adRP), accounting for 25–30% of cases. Symptoms of RHO-adRP include difficulty seeing in dim light or at night, difficulty adjusting to dim light after being in bright light, and loss of side vision, also known as tunnel vision.
There's no cure for RHO-adRP, but medications can help treat complications. Gene therapy and genome surgery strategies are also being developed to treat RHO-adRP. One study used CRISPR/Cas9 to selectively target a variant of the RHO gene, which resulted in partial recovery of photoreceptor function in a mouse model.
Retinitis pigmentosa (RP) is a group of hereditary retinal diseases that cause blindness. It's characterized by the degeneration of photoreceptors, including rod and cone cells. Symptoms usually begin in childhood.
IN THE NEWS
