Results

1–10 of 13 results for mutation

North Carolina Macular Dystrophy: Haplotype Analysis of 31 Families Shows Single Founders for Each Mutation
Kent W. Small, MD
Annual Meeting Talks
2025
Detection of Germline BAP1 Mutations in Patients With Uveal Melanoma
Amy C. Schefler, MD FACS FASRS
Annual Meeting Talks
2025
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