Find a specialist in inherited retinal disease
Your Care TeamPhysicians, researchers and medical centers with published work on inherited retinal diseases, searchable by state, condition, gene and institution. Each entry links to the person's or center's own page. Being listed is not a referral or an endorsement; it is where to start looking.
At a glance
- Listed
- 735 physicians, researchers and centersAcross 44 states and several other countries. The list grows as new work is published.
- Conditions covered
- 52 conditions and the genes behind themPick yours to see who works on it; each tag links to the condition page.
- Near you
- Start with your stateThen widen the search. For a rare gene, the nearest expert may be a flight away, and many centers see patients from anywhere.
- What to bring
- Your records and your gene resultA specialist can do more with your genetic test result, retinal images and visual field reports in hand. See our genetic testing guide.
Search the directory
Search by name, place, condition or gene, or narrow with the filters. Choose a list or a view grouped by institution.
Showing 1–24 of 735 specialists
Laboratory Genetic Metabolic Diseases
University of AmsterdamAmsterdam, Netherlands
Specialized center for genetic metabolic diseases, contributing significantly to the research on hypomorphic mutations causing Heimler syndrome.
Queen Elizabeth HospitalBirmingham, UK
NHS highly specialised multidisciplinary service for adult patients with Wolfram syndrome.
Aix-Marseille UniversityMarseille, France
Institution where researchers are developing gene therapy-mediated overexpression of wild-type MFN2 to improve Charcot-Marie-Tooth disease type 2A, which includes optic atrophy and retinal manifestations.
Clinical Care Program
Children's Hospital of Philadelphia (CHOP)Philadelphia, PA
Serves one of the largest patient populations with Alagille syndrome in the world. Offers a full range of services including diagnostic testing, genetic counseling, and long-term follow-up care.
Clinical Care Program
Stanford Medicine Children's HealthPalo Alto, CA
Provides multidisciplinary evaluation days, specialized imaging protocols, and comprehensive care for children with Alagille syndrome.
Alaska Retinal ConsultantsAnchorage, AK, USA
Ophthalmic practice devoted to diagnosing and treating diseases of the retina, including inherited retinal diseases like Retinitis Pigmentosa and retinal dystrophy.
FDA-Designated Luxturna Gene Therapy Treatment Center
Alkek Eye Center, Baylor College of MedicineHouston, TX, USA
FDA-designated Luxturna (voretigene neparvovec-rzyl) gene therapy treatment center. Staffed with retinal specialists, nurses, and genetic specialists experienced in caring for patients with inherited retinal diseases. Provides comprehensive evaluation, genetic testing, and gene therapy administration for patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
Alström Syndrome InternationalBurleson, TX, USA
A global nonprofit community fighting for a cure for Alström Syndrome, providing financial support, education, and research to scientists, clinicians, and families.
University of AmsterdamAmsterdam, Netherlands
Multidisciplinary team combining genetics, pediatrics, and ophthalmology to research and treat Gyrate Atrophy.
FDA-Designated Luxturna Gene Therapy Treatment Center
Ann & Robert H. Lurie Children's Hospital of ChicagoChicago, IL, USA
FDA-designated Luxturna (voretigene neparvovec-rzyl) gene therapy treatment center. Staffed with retinal specialists, nurses, and genetic specialists experienced in caring for patients with inherited retinal diseases. Provides comprehensive evaluation, genetic testing, and gene therapy administration for patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
Retina Clinic
Associated Retinal ConsultantsRoyal Oak, MI, USA
A specialized retina practice with experts like Dr. Kimberly Drenser focusing on pediatric retinal diseases including FEVR and conducting related research.
Associated Retinal Consultants, P.C.Royal Oak, MI, USA
Study location for the clinical trial 'Retinal Detachment Prevention (Laser Prophylaxis) in Stickler Syndrome (SS)' which includes patients with LRP5 mutations.
Axovia TherapeuticsLondon, United Kingdom
A gene therapy company spun off from University College London, focusing on ciliopathies. Developing AXV-101, an AAV9-based gene therapy for BBS1-related retinal degeneration and obesity.
Our Lady of the Lakes Children's HospitalBaton Rouge, LA
Pediatric obesity-focused BBS center established in 2024. Led by Dr. Katie Queen (Pediatric Obesity).
Multidisciplinary Clinical Program
Lurie Children's HospitalChicago, IL, USA
A multidisciplinary program bringing together specialists in nephrology, genetics, endocrinology, nutrition, and ophthalmology to provide comprehensive care for children with BBS.
Mark J. Daily Inherited Retinal Diseases Research Center
University of Miami Miller School of MedicineMiami, FL, USA
Leading eye hospital with a dedicated center for inherited retinal diseases; site for phase 2 and phase 3 choroideremia gene therapy clinical trials.
FDA-Designated Luxturna Gene Therapy Treatment Center
Bascom Palmer Eye Institute, University of MiamiMiami, FL, USA
FDA-designated Luxturna (voretigene neparvovec-rzyl) gene therapy treatment center. Staffed with retinal specialists, nurses, and genetic specialists experienced in caring for patients with inherited retinal diseases. Provides comprehensive evaluation, genetic testing, and gene therapy administration for patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
Medical Center / University
Baylor College of MedicineHouston, TX, USA
A leading institution in SPATA7 research, having identified SPATA7 as the LCA3 gene and conducted extensive studies on its function and AAV8-mediated gene therapy in knockout mouse models.
Baylor College of MedicineHouston, TX, USA
Institution conducting significant research on the molecular basis of Bardet-Biedl syndrome and developing gene therapy approaches to prevent photoreceptor death in BBS models.
Clinical Trial Center
Beijing Tongren HospitalBeijing, China
Conducting clinical trials for VGR-R01, an AAV vector carrying the human CYP4V2 coding sequence, for patients with Bietti Crystalline Dystrophy.
Newcastle UniversityNewcastle upon Tyne, United Kingdom
Conducts research on pre-mRNA processing factors, including PRPF3, and their role in retinitis pigmentosa.
Boston Children's HospitalBoston, MA, USA
Home to the Pipeline for Usher Syndrome Research (PUSH) and leading preclinical gene therapy research for USH1C using AAV vectors to restore sensory functions.
Massachusetts General Hospital & Massachusetts Eye and Ear InfirmaryBoston, MA, USA
A multi-disciplinary center providing comprehensive care for children, adolescents, and adults with Refsum Disease (caused by PHYH mutations), integrating neurology, ophthalmology, and dietetics.
Department of Ophthalmology
Stanford UniversityStanford, CA, USA
Leading center for pediatric retinal diseases, conducting clinical and genetic studies on FEVR and FZD4.
How to use this directory
The directory is built from published work, so it tells you who knows a condition. It does not tell you who is taking new patients; the person's or center's own page does.
- Start with your stateChoose it in the State filter. If the list is short, clear the state and search by condition instead; a center two states away may be the right one.
- Narrow by condition or geneOnce you have a genetic result, search the gene symbol. Researchers who publish on a gene are often the ones running its trials.
- Open the entryThe name opens a panel with the full description, every condition and gene linked to the entry, and the link to their own page, which is where you check whether they see patients and how to make an appointment.
- Ask for a referralBring the name to your eye doctor. Some specialists and most academic centers need a referral, and your records travel faster that way.
If nobody is near you
- Ask for a retina specialist with inherited retinal disease experience
- Your ophthalmologist or your state blind services agency can usually name one; many academic eye centers run an inherited retinal disease clinic even when no one from it is listed here yet.
- Use the registry and the trials list
- Foundation Fighting Blindness's My Retina Tracker registry connects people to research, and our clinical trials pages list where each study enrolls.
- Tell us who is missing
- Know a specialist who should be here? Email info@araceagainstblindness.org with the subject "Specialist suggestion".
About this directory. Entries are compiled from published research and institutional pages and are updated as new work appears. A listing is not a referral, an endorsement, or a statement that the person or center accepts patients. Check credentials and availability with the practice directly. This page is for education and is not medical advice.