Results

1–10 of 11 results for mutation

North Carolina Macular Dystrophy NCMD-MCDR1- Analysis of Our Entire Database a Model Disease of Noncoding Mutations
Kent W. Small, MD
Annual Meeting Talks
2023
BCVA Analysis of Low- or High-Dose MCO-010 Optogenetic Therapy for Retinitis Pigmentosa: FIRST TIME 100-Week TOPLINE Results From a Phase 2b/3 Clinical Trial (RESTORE)
Michael A. Singer, MD
Annual Meeting Talks
2024
Clinical Characterization of Hexokinase 1 (HK1) Mutations Causing Autosomal Dominant Pericentral Retinitis Pigmentosa
Patrick Staropoli, MD
Annual Meeting Talks
2024
Safety and Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 8 Years and 9 Years
Stephen R. Russell, MD
Annual Meeting Talks
2024
Likelihood of Germline Mutation With Solitary Unilateral Retinoblastoma Based on Patient Age at Presentation: Real-World Analysis of 482 Consecutive Patients.
Carol L. Shields, MD
Annual Meeting Talks
2022
Retinoblastoma
Akansha Sharma
Retina Image Bank: Images of the Week
2022
Giant Retinal Tear Detachments in LEPREL1 Mutations Mimicking Ocular Stickler Syndrome: A Condition With an Associated Nephropathy
Sulaiman M Al Sulaiman, MD
Annual Meeting Talks
2021
North Carolina Macular Dystrophy in a Turkish Family: A New Mutation for MCDR1 Involving PRDM13
Kent W. Small, MD
Annual Meeting Talks
Year 1 Time to Mobility Test Completion in a Voretigene Neparvovec-rzyl Trial in Subjects With RPE65 Mutation–Associated Inherited Retinal Disease
Julia A. Haller, MD
On Demand Cases, Courses, and Papers
2018
3-Year Update for the Phase 3 Voretigene Neparvovec-rzyl Study in Biallelic RPE65 Mutation-Associated Inherited Retinal Disease
Stephen R. Russell, MD
Annual Meeting Talks
2018