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  1. Hereditary Retinal Disease & Genetics
  2. Inherited retinal diseases
  3. Ocular Oncology
  4. Pediatric Retina

1–7 of 7 results for mutation

  • 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

  • 3-Year Update for the Phase 3 Voretigene Neparvovecrzyl Study in Biallelic RPE65 Mutation–Associated Inherited Retinal Disease

    Stephen R. Russell, MD

    Updates from the Field

    2018

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