Search Results - "Kim, Angela H"

Foveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy by Jenny, Laura A., Liu, Pei-Kang, Kolesnikova, Masha, Duong, Jimmy, Kim, Angela H., Levi, Sarah R., Greenstein, Vivienne C., Tsang, Stephen H.

“…Bietti crystalline dystrophy (BCD) is an ultra-rare orphan disorder that can lead to blindness. Because of the variable rates of progression of the disease, it…”
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Congenital Stationary Night Blindness: Clinical and Genetic Features by 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

“…Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic,…”
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Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence by Kolesnikova, Masha, Lima de Carvalho, Jose Ronaldo, Parmann, Rait, Kim, Angela H., Mahajan, Vinit B., Tsang, Stephen H., Sparrow, Janet R.

“…Introduction Leber congenital amaurosis (LCA) type 2, due to disease‐causing variants in RPE65, is characterized by severe visual loss in early infancy…”
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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa by 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

“…Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically…”
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A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease by 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

“…Here, we describe affected members of a 2-generation family with a Stargardt disease-like phenotype caused by a 2-base pair deletion insertion,…”
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Neurological toxicities associated with chimeric antigen receptor T-cell therapy by Rubin, Daniel B, Danish, Husain H, Ali, Ali Basil, Li, Karen, LaRose, Sarah, Monk, Andrew D, Cote, David J, Spendley, Lauren, Kim, Angela H, Robertson, Matthew S, Torre, Matthew, Smith, Timothy R, Izzy, Saef, Jacobson, Caron A, Lee, Jong Woo, Vaitkevicius, Henrikas

“…Patients treated with chimeric antigen receptor (CAR) T cell therapy often develop severe neurological toxicities associated with focal neurological deficits…”
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Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy by Soucy, Megan, Kolesnikova, Masha, Kim, Angela H., Tsang, Stephen H.

“…Introduction Mutations in the peripherin-2 gene ( PRPH2 ) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We…”
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Effects of medications on hypoxia‐inducible factor in the retina: A review by Kim, Angela H., Kolesnikova, Masha, Ngo, Wei Kiong, Tsang, Stephen H.

“…Hypoxia‐inducible factor (HIF) plays a critical role in the mechanisms that allow cells to adapt to various oxygen levels in the environment. Specifically,…”
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Correlations of Full-Field Stimulus Threshold With Functional and Anatomical Outcome Measurements in Advanced Retinitis Pigmentosa by Ngo, Wei Kiong, Jenny, Laura A., Kim, Angela H., Kolesnikova, Masha, Greenstein, Vivienne C., Tsang, Stephen H.

“…To compare full-field stimulus (FST) threshold values to conventional functional and anatomical measures commonly used in clinical practice. Cross-sectional…”
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Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study by Liu, Pei-Kang, Lee, Winston, Su, Pei-Yin, Kim, Angela H., Kang, Eugene Yu-Chuan, Levi, Sarah R., Jenny, Laura A., Lin, Pei-Hsuan, Chi, Yi-Chun, Wu, Pei-Liang, Wang, Ethan Hung-Hsi, Chang, Yo-Chen, Liu, Laura, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Tsang, Stephen H., Allikmets, Rando, Wang, Nan-Kai

“…This study aims to explore genetic variants that potentially lead to outer retinal tubulation (ORT), estimate the prevalence of ORT in these candidate genes,…”
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Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes by Kolesnikova, Masha, Lima de Carvalho, Jr, Jose Ronaldo, Oh, Jin Kyun, Soucy, Megan, Demirkol, Aykut, Kim, Angela H, Tsang, Stephen H, Breazzano, Mark P

“…To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the…”
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Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature by Tran, Matthew, Kolesnikova, Masha, Kim, Angela H, Kowal, Tia, Ning, Ke, Mahajan, Vinit B, Tsang, Stephen H, Sun, Yang

“…RPGR mutations are the most common cause of X-linked retinitis pigmentosa (XLRP). High myopia has been described as a very frequent feature among affected…”
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Management of traumatic globe subluxation with optic nerve and extraocular muscle transection by Kim, Angela H., Kim, Janice, Nayer, Zacharia H., Plum, William, Glass, Lora R. Dagi

“…A care algorithm for partial globe subluxation cases with optic nerve and at least one extraocular muscle (EOM) transection is presented after a literature…”
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Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature by Tran, Matthew, Kolesnikova, Masha, Kim, Angela H., Kowal, Tia, Ning, Ke, Mahajan, Vinit B., Tsang, Stephen H., Sun, Yang

“…RPGR mutations are the most common cause of X-linked retinitis pigmentosa (XLRP). High myopia has been described as a very frequent feature among affected…”
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