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Ophthalmic Genetics|January 25, 2023
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1Nathália Nishiyama Tondelli, Beatriz Mello Mencaroni, Carolina Maria Barbosa Lemos, et al.
Translational Vision Science & Technology|April 14, 2023
Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzylCristy A Ku, Austin D Igelman, Samuel J Huang, et al.
Ophthalmic Genetics|August 18, 2023
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathyMariana Matioli da Palma, Molly Marra, Austin D Igelman, et al.
Ophthalmic Genetics|January 7, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international studyOgul E Uner, Radwa Elsharawi, Margaret Reynolds, et al.
Ophthalmic Genetics|July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndromeAustin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Ophthalmic Genetics|June 25, 2026
Ora visual navigation course™ mobility test results in two individuals with CEP290 LCA after intravitreal injection of antisense oligonucleotideCaio Marques, Gabriela Doná Rodrigues, Ester Abigail da Silva Martins, et al.
American Journal of Ophthalmology|March 6, 2022
Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5Maria A Parker, Laura R Erker, Isabelle Audo, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
American Journal of Ophthalmology|May 29, 2025
RPGR-Related Retinal Dystrophy in Latin America-A Collaborative StudyMalena Daich Varela, Rene Moya, José D Luna, et al.
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