Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence

por Kolesnikova, Masha, Lima de Carvalho, Jose Ronaldo, Parmann, Rait, Kim, Angela H., Mahajan, Vinit B., Tsang, Stephen H., Sparrow, Janet R.
Publicado 2022

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

por Lopes da Costa, Bruna, Kolesnikova, Masha, Levi, Sarah R., Cabral, Thiago, Tsang, Stephen H., Maumenee, Irene H., Quinn, Peter M. J.
Publicado 2023

Foveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy

por Jenny, Laura A., Liu, Pei-Kang, Kolesnikova, Masha, Duong, Jimmy, Kim, Angela H., Levi, Sarah R., Greenstein, Vivienne C., Tsang, Stephen H.
Publicado 2022

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

por Kolesnikova, Masha, Lima de Carvalho, Jose Ronaldo, Oh, Jin Kyun, Soucy, Megan, Demirkol, Aykut, Kim, Angela H., Tsang, Stephen H., Breazzano, Mark P.
Publicado 2023

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

por Kolesnikova, Masha, Oh, Jin Kyun, Wang, Jiali, Lee, Winston, Zernant, Jana, Su, Pei-Yin, Kim, Angela H., Jenny, Laura A., Yang, Tingting, Allikmets, Rando, Tsang, Stephen H.
Publicado 2022