SAG
- Disease Category
- autosomal dominant
- Patient Population
- —
- Clinical Trials
- None at this time
- Institution(s) Conducting Research
- —
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.
SAG retinitis pigmentosa is a type of retinitis pigmentosa (RP) that's caused by a mutation in the SAG gene. SAG stands for S-antigen gene, which is located on chromosome 2q37. A mutation in the SAG gene can also cause Oguchi disease-1, a type of congenital stationary night blindness. RP is a progressive disorder that typically begins in childhood. The rate of progression and degree of visual loss varies from person to person. Many people with RP are legally blind by age 40. Symptoms include difficulty seeing at night, difficulty adjusting to light changes, difficulty seeing in poor weather, tunnel vision, difficulty seeing colors (especially blue), gradual vision loss, clumsiness due to poor vision, sensation of twinkling or flashing light, and sensitivity to bright light (photophobia).
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.
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.