Ophthalmic Genetics
A leading center for inherited eye diseases
The Ophthalmic Genetics Service at the Casey Eye Institute is one of the premier centers in the world for patients with genetic diseases of the retina and other areas of the eye. Our mission is to provide superb patient care, conduct pioneering research that will lead to effective treatments for inherited retinal diseases, and train the next generation of ophthalmic genetics specialists.
Make an appointment
tel: 503-494-8386
Meet our providers
Ophthalmic genetics
-
- Lesley Everett, M.D., Ph.D.
- Ophthalmology, Ophthalmology and Retina and Vitreous Disease Portland
- Accepting new patients
-
- Mark Pennesi, M.D., Ph.D.
- Ophthalmology and Retinal Dystrophies Congenital/Genetic Disease Portland
-
- Paul Yang, M.D., Ph.D.
- Chief, Paul H. Casey Ophthalmic Genetics Division
- Ophthalmology and Retinal Dystrophies Congenital/Genetic Disease Portland
- Accepting new patients
Vitreoretinal Surgeons
-
- Steven Bailey, M.D.
- Ophthalmology, Macular Degeneration and Retina and Vitreous Disease Portland and The Dalles
- Accepting new patients
-
- Andreas K. Lauer, M.D.
- Margaret Thiele Petti and August Petti Chair of Ophthalmology
- Ophthalmology, Macular Degeneration and Retina and Vitreous Disease Portland
Genetic counselors
-
- Grace Waldow, M.S., C.G.C.
- Accepting new patients
Gene Therapy
New treatments bring hope to inherited eye diseases
Promising new treatments are being studied and developed for people with genetic eye diseases of the retina. Called gene therapy, this treatment involves replacing non-working genes with healthy copies to slow or halt vision loss.
Clinical Trials in the Pre-Start Phase:
- A Two-Year Double-masked, Randomized, Sham-Controlled Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene. ClinicalTrials.gov ID NCT06627179
- Global Patient Registry of Inherited Retinal Diseases. ClinicalTrials.gov ID NCT05957276
Clinical Trials in the Recruitment Phase:
- A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
- Rate of Progression in USH2A Related Retinal Degeneration (RUSH2A). ClinicalTrials.gov ID NCT03146078.
- Ascidian Therapeutics, Inc. / “Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of Subretinal ACDN-01 in Participants with ABCA4-related Retinopathy” (Stellar). ClinicalTrials.gov ID NCT06467344
- A Phase 1/2 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) and a Phase 2 Randomized, Controlled, Masked, Multi-center Study Comparing Two Doses of AGTC-501 in Male Participants with X-linked Retinitis Pigmentosa (Dawn). ClinicalTrials.gov ID NCT06275620
- A Phase 1/2, Open-Label, Dose Escalation and Dose Expansion Study to Evaluate the Safety and Tolerability of ATSN-201 Gene Therapy in Male Subjects with RS1-Associated X-linked Retinoschisis (LIGHTHOUSE). ClinicalTrials.gov ID NCT05878860
- An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (POLARIS). ClinicalTrials.gov ID NCT06435000
- Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants (UniRare)
- A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa (VISTA). ClinicalTrials.gov ID NCT04850118.
- A phase i/ii study to assess the safety and tolerability of a single subretinal administration of spvn06 gene therapy in subjects with rod-cone dystrophy (rcd) due to a mutation in the rho, pde6a, or pde6b gene (prodygy). ClinicalTrials.gov ID NCT05748873
Clinical Trials Closed to Enrollment:
- A Natural History and Outcome Measure Discovery Study of PRPF31 Mutation–Associated Retinal Dystrophy (Quokka). ClinicalTrials.gov ID NCT05573984
- A Phase 1 Open-Label, Single Arm Dose Escalation Study to Evaluate the Safety and Tolerability of Intravitreally Administered VP-001 in Participants with Confirmed PRPF31 Mutation-Associated Retinal Dystrophy (Platypus). ClinicalTrials.gov ID NCT05902962
- A Phase 1/2 Open-Label, Multiple Ascending Dose Study to Evaluate the Safety and Tolerability of Repeatedly Administered Intravitreally VP-001 in Participants with Confirmed PRPF31 Mutation-Associated Retinal Dystrophy (Wallaby). ClinicalTrials.gov ID NCT06455826
- A Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa (RP) associated with NR2E3 and RHO mutations and Leber Congenital Amaurosis (LCA) with mutation(s) in CEP290 gene. ClinicalTrials.gov ID NCT05203939
- The Natural History of LCHAD Retinopathy
- A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE). ClinicalTrials.gov ID NCT03584165
- A Phase 1/2 Dose Escalation Study of Subretinally Injected ATSN-101 Administered in Patients with Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D. ClinicalTrials.gov ID NCT03920007
- An Open-label, Phase 1/2 Trial of Gene Therapy 4D-125 in Males with X-linked Retinitis Pigmentosa (XLRP) Caused by Mutations in the RPGR Gene. ClinicalTrials.gov ID NCT04517149
- Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS). ClinicalTrials.gov ID NCT04127006
- An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) in Subjects with X-linked Retinitis Pigmentosa caused by RPGR-ORF15 mutations (Horizon). ClinicalTrials.gov ID NCT03316560
- A Phase 1/2 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) and a Phase 2 Randomized, Controlled, Masked, Multi-center Study Comparing Two Doses of AGTC-501 in Male Subjects with X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene (Skyline). ClinicalTrials.gov ID NCT06333249
- A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC-401, a Recombinant Adeno-associated Virus Vector Expressing CNGB3, in Patients with Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene. ClinicalTrials.gov ID NCT02599922
- A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC-402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients with Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene. ClinicalTrials.gov ID NCT02935517
- An open label study to determine the longterm safety, tolerability and biological activity of SAR422459 in patients with Stargardt’s macular degeneration. ClinicalTrials.gov ID NCT01736592
- An open-label study to determine the long-term safety, tolerability and biological activity of SAR421869 in patients with Usher syndrome Type 1B. ClinicalTrials.gov ID NCT02065011
- Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants with Leber Congenital Amaurosis Type 10 (LCA10), with Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene (“LCA10-IVS26”). ClinicalTrials.gov ID NCT03872479
- A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec in US.
Diagnostic Service
The Richard G. Weleber Ophthalmic Diagnostic Service specializes in advanced testing to assess the health and function of the eye and visual system. Using state-of-the-art visual electrophysiology and perimetry techniques, our team provides precise diagnostics to support patient care and treatment planning. We work closely with clinicians and researchers to offer comprehensive evaluations for a wide range of eye conditions, helping to guide effective treatment and improve patient outcomes.
Tests include:
- Electrophysiology
- Full-field ERG
- Multifocal ERG
- Perimetry
Learn more about these tests and request testing for a patient if you are a referring provider.
Patient programs
Genetic counseling
There are over 100 genes associated with inherited retinal dystrophies. Identifying a specific genetic variant can confirm the doctor's diagnosis and guide in treatment considerations. It can also help family members understand their chances of developing similar symptoms. If there is a concern for an inherited retinal dystrophy, a genetic counselor will review family history information and counsel on which genetic test would be most appropriate. The test typically involves a cheek swab being gently rubbed on the inside of both cheeks. Test results typically take 2-3 months to return. At that time, a genetic counselor will explain the results through a phone visit.
Low vision Services
The Low Vision Rehabilitation Center at OHSU Casey Eye Institute offers expert care, advanced tools, and compassionate support to help you maximize your quality of life when experiencing low vision or vision loss. Our team of specialists, including optometrists and a certified low vision therapist, work to develop a personalized plan for managing daily activities with confidence. Learn more.
Vision Loss Support Groups
We are proud to have two licensed social workers at Casey Eye Institute, who provide compassionate, supportive care, including vision loss support groups for adults and children, to help you and your family adjust to changes in your vision. Learn more.
Retinal Stem Cell Center
The Retinal Stem Cell Center at the Casey Eye Institute is working to find new ways to treat inherited retinal diseases (IRDs). Scientists at the center use stem cells to study why vision loss happens and to develop possible treatments to restore sight. Their work focuses on using regenerative medicine, creating models to better understand diseases, and finding new ways to slow down or even reverse vision loss. Through collaboration and cutting-edge science, the center is bringing new hope to individuals affected by these challenging conditions.
Learn more: