Newly diagnosed?
If you or your child was just told you have an inherited retinal disease, start here. This page lays out the steps most families take next, in order, with guides written for your specific condition.
The path most families take
Five steps, in the order they usually happen. You don't have to do them all this week.
Understand the diagnosis
Ask your eye doctor for the exact name of the condition and write it down. Inherited retinal diseases are a group of rare conditions caused by changes in one of more than 300 genes, and many look alike early on, so the precise name matters for everything that follows.
Why it matters: the name decides which tests, treatments, studies and support groups apply to you.
Browse the condition profilesFind a retina specialist who sees inherited retinal diseases
A retina specialist with IRD experience can confirm the diagnosis, order the right tests, and tell you about the treatments and studies that fit your condition. If a general ophthalmologist or optometrist made the diagnosis, ask for a referral to an IRD specialist or an academic eye center.
Why it matters: general eye care is excellent at many things; rare retinal disease is a specialty of its own.
Find an IRD specialist near youGet genetic testing, with counseling
Genetic testing looks for the specific gene change behind the diagnosis. A result can confirm the diagnosis and show how the condition runs in your family, and some clinical trials require one before you can take part.
Good to know: in the United States, the Foundation Fighting Blindness My Retina Tracker Genetic Testing Program offers testing and counseling at no cost to people with a clinical IRD diagnosis. Ask your doctor to enroll you.
Read the genetic testing guideConnect with families who have been here
Condition-specific foundations, support groups and other parents can answer the questions a clinic visit can't: school, daily life, what to expect. Our resource directory lists trusted organizations, and if the diagnosis is your child's, the Children & Families guide covers school accommodations and everyday support.
Why it matters: the people a few years ahead of you are the best map there is.
Find support organizationsExplore clinical trials
Research is moving quickly, and a confirmed genetic diagnosis is the key that opens many studies. Our trial search pulls live listings from ClinicalTrials.gov so you can see what is recruiting for your condition and bring the list to your specialist. A trial is a study, not a treatment, and whether to join is a decision to make with your care team.
Why it matters: you don't have to join a trial to benefit from knowing what's out there.
Search active trials
Guides written for your condition
For every condition in our database there is a patient guide and a parent guide written for the first weeks after diagnosis. Find yours.
- AchromatopsiaPatient guideParent guide
- Alagille SyndromePatient guideParent guide
- Alstrom SyndromePatient guideParent guide
- Autosomal Dominant Optic AtrophyPatient guideParent guide
- Autosomal Dominant VitreoretinochoroidopathyPatient guideParent guide
- Bardet-Biedl SyndromePatient guideParent guide
- Batten DiseasePatient guideParent guide
- Benign Fleck RetinaPatient guideParent guide
- Best DiseasePatient guideParent guide
- Bietti Crystalline DystrophyPatient guideParent guide
Questions to bring to your next appointment
Write the answers down. You'll want them for steps 3 and 5.
- What is the exact name of the condition, and how certain is the diagnosis?
- Has genetic testing been ordered? If not, can it be ordered through a no-cost program?
- How is this condition inherited, and should anyone else in the family be tested?
- Is there an approved treatment for this gene, or a clinical trial I might qualify for?
- Should I be referred for a low-vision evaluation or vision rehabilitation?
- How often should I come back, and which changes should I report right away?
Our family started here too
A Race Against Blindness was started by a family after their son Luke was diagnosed with Bardet-Biedl syndrome, which causes retinitis pigmentosa. The first weeks were a blur of questions with no clear place to start. This page is the one we wish we'd had. Everything on it is free, and the research we fund is so the next family has more options than we did.
Read our storyMedical 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.