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

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

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

por Chen, Nelson, Lee, Hane, Kim, Angela H., Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Publicado 2022

Congenital Stationary Night Blindness: Clinical and Genetic Features

por Kim, Angela H., Liu, Pei-Kang, Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Wang, Hung-Hsuan, Chen, Nelson, Tseng, Yun-Ju, Seo, Go Hun, Lee, Hane, Liu, Laura, Chao, An-Ning, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Tsang, Stephen H., Hsiao, Meng-Chang, Wang, Nan-Kai
Publicado 2022