Understanding Inherited Retinal Diseases
Comprehensive, up-to-date information on 52 IRD conditions and 125 associated genes. Empowering patients, families, and researchers with the latest research insights.
Where would you like to start?
Pick the one that sounds most like you.
- We just got a diagnosisA calm place to begin, with the next steps laid out in order.
- I'm looking for a clinical trialStudies for inherited retinal diseases, with phase and enrollment status.
- I'm raising a child with an IRDSchool, support, and everyday life for parents and caregivers.
- I'm a researcher or clinicianGene profiles with references, linked to the conditions they cause.
Know what you're looking for?
The condition that started our race
Bardet-Biedl Syndrome
Bardet-Biedl Syndrome (BBS) is a rare, multisystem genetic disorder characterized by retinal degeneration, obesity, intellectual disability, kidney abnormalities, extra fingers/toes (polydactyly), and hypogonadism. It is a ciliopathy, meaning it results from defects in cilia.
- Inheritance
- Autosomal recessive
- Age of onset
- First decade of life
- Prevalence
- 1 in 120,000–160,000 (North America and Europe)
- Retinavision loss
- Kidneysstructure and function
- Extra fingers or toespolydactyly
- Weighthunger and weight gain
- Learningdevelopmental differences
Trials in motion
Active studies for inherited retinal diseases, by how far along they are.
Eye, retina, and related syndrome studies. Source: ClinicalTrials.gov, as of Nov 8, 2026. For information only; talk with your retina specialist.
See all trials- Early phase 1
- Phase not listed
- Phase 1
Newly diagnosed?
Getting an IRD diagnosis can be overwhelming. Here is the path most families take, one step at a time.
Start the guide- Understand the diagnosis
- Find a retina specialist
- Get genetic testing
- Connect with families
- Explore trials
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice. It is not a substitute for seeking medical opinions, nor an endorsement of any treatments, research, or organizations. Trial information is sourced from ClinicalTrials.gov and public press releases. Genetic testing and clinical management should be performed by qualified healthcare professionals, including ophthalmologists and genetic counselors.