BBS1
- Disease Category
- autosomal recessive
- Patient Population
- —
- Clinical Trials
- None found
- Institution(s) Conducting Research
- —
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.
Retinitis pigmentosa (RP) is a symptom of Bardet-Biedl syndrome (BBS1), an inherited disease that causes progressive vision loss. RP is the primary cause of vision loss in BBS, affecting about 90% of patients. Other symptoms include obesity, extra fingers and toes, kidney disease, and developmental disabilities. The BBS1 gene provides instructions for making a protein that's part of a complex that helps form cilia, cell structures. BBS is often diagnosed in childhood or adolescence. Patients typically develop RP symptoms in their first decade of life, and often reach legal blindness in their second or third decade. Night blindness is the most common initial symptom, usually first noticed around age 8.5. There's no cure for RP, but treatments can help patients make the most of their vision. Treatments may include low vision aids, rehabilitation programs, vitamins and supplements, glasses to improve central visual acuity.
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.