← Genetic Insights

RHO

A Face of RPMichaelNaugatuck, CT
Disease Category
autosomal dominant
Patient Population
unknown
Clinical Trials
3 recruiting
Institution(s) Conducting Research
University of Michigan, UPMC Eye Center Pittsburgh, UCSD, ue Anschutz-Rogers Eye Center, University of Colorado, Duke Eye Center

Where things stand · Treatment

Treatment options

None known

Where things stand · Clinical trials

Studies that may be relevant to review

Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.

Find clinical trialsOpens the Clinical Trials Finder with this gene — you can change or remove it.

Brief description

A clear, everyday-language overview of this gene.

-mediated 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. and genome surgery strategies are also being developed to treat RHO-adRP. One study used /Cas9 to selectively target a variant of the RHO gene, which resulted in partial recovery of 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.

Support, accessibility and family guidance(the same for every gene)

This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.

Ask before helping
People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
Low-vision rehabilitation
Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
Accessible technology
Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
School and work
Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
Emotional and community support
A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
Genetic counselling
A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.
Last reviewed: not yet reviewedReviewer:

Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.