Molecular Mechanisms of Retinal Degeneration and Regeneration
Pincay, J., da Costa, B. L., Quinn, P. M. J., Rodriguez, M., Zhou, A., Kong, M. D., Sparrow, J. R., & Tsang, S. H. (2025). Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration. Documenta Ophthalmologica. https://doi.org/10.1007/s10633-025-10016-3
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Yeager, L. B., Li, C. Y., Bogolmony, D., Debelenko, L., & Marr, B. P. (2025). Vitreous Hemorrhage in Posterior Uveal Melanocytoma: Two Case Reports. Case Reports in Ophthalmological Medicine, 2025(1). Portico. https://doi.org/10.1155/crop/5126550
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Sassone, F., Estay-Ahumada, C., Roux, M. J., Ciocca, D., Rossolillo, P., Birling, M.-C., Sparrow, J. R., Montenegro, D., & Hicks, D. (2024). Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-81869-y
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Fu, C., Yang, N., Chuang, J.-Z., Nakajima, N., Iraha, S., Roy, N., Wu, Z., Jiang, Z., Otsu, W., Radu, R. A., Yang, H. H., Lee, M. P., Worgall, T. S., Xiong, W.-C., & Sung, C.-H. (2024). Mutant mice with rod-specific VPS35 deletion exhibit retinal α-synuclein pathology-associated degeneration. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-50189-0
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Li, Y., Yang, R. R., Li, Y. S., Hsu, C. W., Jenny, L. A., Kong, Y., Ruan, M. Z., Sparrow, J. R., & Tsang, S. H. (2024). Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy. JCI insight, 9(16), e177231. https://doi.org/10.1172/jci.insight.177231
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Kunala, K., Tang, J. A. H., Bowles Johnson, K. E., Huynh, K. T., Parkins, K., Kim, H.-J., Yang, Q., Sparrow, J. R., & Hunter, J. J. (2024). Near Infrared Autofluorescence Lifetime Imaging of Human Retinal Pigment Epithelium Using Adaptive Optics Scanning Light Ophthalmoscopy. Investigative Ophthalmology & Visual Science, 65(5), 27. https://doi.org/10.1167/iovs.65.5.27
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Nolan, N. D., Cui, X., Robbings, B. M., Demirkol, A., Pandey, K., Wu, W.-H., Hu, H. F., Jenny, L. A., Lin, C.-S., Hass, D. T., Du, J., Hurley, J. B., & Tsang, S. H. (2024). CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa. Cell Reports Medicine, 5(4), 101459. https://doi.org/10.1016/j.xcrm.2024.101459
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Oevel, K., Hohensee, S., Kumar, A., Rosas-Brugada, I., Bartolini, F., Soykan, T., & Haucke, V. (2024). Rho GTPase signaling and mDia facilitate endocytosis via presynaptic actin. ELife, 12. CLOCKSS. https://doi.org/10.7554/elife.92755.3
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Ramkumar, S., Jastrzebska, B., Montenegro, D., Sparrow, J. R., & von Lintig, J. (2024). Unraveling the mystery of ocular retinoid turnover: Insights from albino mice and the role of STRA6. Journal of Biological Chemistry, 300(3), 105781. https://doi.org/10.1016/j.jbc.2024.105781
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Cornelis, S. S., Bauwens, M., Haer-Wigman, L., De Bruyne, M., Pantrangi, M., De Baere, E., Hufnagel, R. B., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework. Human Mutation, 2023, 1–12. https://doi.org/10.1155/2023/6815504
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Zhao, J., Kim, H. J., Montenegro, D., Dunaief, J. L., & Sparrow, J. R. (2023). Iron overload and chelation modulates bisretinoid levels in the retina. Frontiers in Ophthalmology, 3. https://doi.org/10.3389/fopht.2023.1305864
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Wang, N.-K., Liu, P.-K., Kong, Y., Tseng, Y.-J., Jenny, L. A., Nolan, N. D., Chen, N., Wang, H.-H., Hsu, C. W., Huang, W.-C., Sparrow, J. R., Lin, C.-S., & Tsang, S. H. (2023). Spatiotemporal control of genome engineering in cone photoreceptors. Cell & Bioscience, 13(1). https://doi.org/10.1186/s13578-023-01033-3
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Javitt, D. C., Martinez, A., Sehatpour, P., Beloborodova, A., Habeck, C., Gazes, Y., Bermudez, D., Razlighi, Q. R., Devanand, D. P., & Stern, Y. (2023). Disruption of early visual processing in amyloid-positive healthy individuals and mild cognitive impairment. Alzheimer’s Research & Therapy, 15(1). https://doi.org/10.1186/s13195-023-01189-7
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De Moraes, C. G., Lane, K. J., Wang, X., & Liebmann, J. M. (2023). A potential primary endpoint for clinical trials in glaucoma neuroprotection. Scientific Reports, 13(1). https://doi.org/10.1038/s41598-023-34009-x
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Lin, T.-Y., Wu, P.-L., Kang, E. Y.-C., Chi, Y.-C., Jenny, L. A., Lin, P.-H., Lee, C.-Y., Liu, C.-H., Liu, L., Yeh, L.-K., Chen, K.-J., Hwang, Y.-S., Wu, W.-C., Lai, C.-C., Hsiao, M.-C., Liu, P.-K., & Wang, N.-K. (2023). Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders. Investigative Opthalmology & Visual Science, 64(14), 25. https://doi.org/10.1167/iovs.64.14.25
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Kim, H. J., Zhao, J., Walewski, J. L., & Sparrow, J. R. (2023). A high fat diet fosters elevated bisretinoids. Journal of Biological Chemistry, 299(6), 104784. https://doi.org/10.1016/j.jbc.2023.104784
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Greenstein, V. C., Castillejos, D. S., Tsang, S. H., Lee, W., Sparrow, J. R., Allikmets, R., Birch, D. G., & Hood, D. C. (2023). Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence. Translational Vision Science & Technology, 12(5), 2. https://doi.org/10.1167/tvst.12.5.2
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Paavo, M., Lee, W., Parmann, R., Lima de Carvalho, J. R., Zernant, J., Tsang, S. H., Allikmets, R., & Sparrow, J. R. (2023). Insights Into PROM1-Macular Disease Using Multimodal Imaging. Investigative Opthalmology & Visual Science, 64(4), 27. https://doi.org/10.1167/iovs.64.4.27
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Piperno-Neumann, S., Carlino, M. S., Boni, V., Loirat, D., Speetjens, F. M., Park, J. J., Calvo, E., Carvajal, R. D., Nyakas, M., Gonzalez-Maffe, J., Zhu, X., Shirley, M. D., Ramkumar, T., Fessehatsion, A., Burks, H. E., Yerramilli-Rao, P., & Kapiteijn, E. (2023). A phase I trial of LXS196, a protein kinase C (PKC) inhibitor, for metastatic uveal melanoma. British Journal of Cancer, 128(6), 1040–1051. https://doi.org/10.1038/s41416-022-02133-6
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Kolesnikova, M., Lima de Carvalho, J. R., Oh, J. K., Soucy, M., Demirkol, A., Kim, A. H., Tsang, S. H., & Breazzano, M. P. (2023). Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. Investigative Opthalmology & Visual Science, 64(3), 23. https://doi.org/10.1167/iovs.64.3.23
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He, H., Ahsan, A., Bera, R., McLain, N., Faulkner, R., Ramachandran, K. V., Margolis, S. S., & Cline, H. T. (2023). Neuronal membrane proteasomes regulate neuronal circuit activity in vivo and are required for learning-induced behavioral plasticity. Proceedings of the National Academy of Sciences, 120(3). https://doi.org/10.1073/pnas.2216537120
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Chen, N., Lee, H., Kim, A. H., Liu, P.-K., Kang, E. Y.-C., Tseng, Y.-J., Seo, G. H., Khang, R., Liu, L., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2022). Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. BMC Ophthalmology, 22(1). https://doi.org/10.1186/s12886-022-02659-6
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Montenegro, D., Zhao, J., Kim, H. J., Shmarakov, I. O., Blaner, W. S., & Sparrow, J. R. (2022). Products of the visual cycle are detected in mice lacking retinol binding protein 4, the only known vitamin A carrier in plasma. Journal of Biological Chemistry, 298(12), 102722. https://doi.org/10.1016/j.jbc.2022.102722
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Ganapathi, M., Thomas-Wilson, A., Buchovecky, C., Dharmadhikari, A., Barua, S., Lee, W., Ruan, M. Z. C., Soucy, M., Ragi, S., Tanaka, J., Clark, L. N., Naini, A. B., Liao, J., Mansukhani, M., Tsang, S., & Jobanputra, V. (2022). Clinical exome sequencing for inherited retinal degenerations at a tertiary care center. Scientific Reports, 12(1). https://doi.org/10.1038/s41598-022-13026-2
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Kim, A. H., Liu, P.-K., Chang, Y.-H., Kang, E. Y.-C., Wang, H.-H., Chen, N., Tseng, Y.-J., Seo, G. H., Lee, H., Liu, L., Chao, A.-N., Chen, K.-J., Hwang, Y.-S., Wu, W.-C., Lai, C.-C., Tsang, S. H., Hsiao, M.-C., & Wang, N.-K. (2022). Congenital Stationary Night Blindness: Clinical and Genetic Features. International Journal of Molecular Sciences, 23(23), 14965. https://doi.org/10.3390/ijms232314965
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Oh, J. K., Vargas Del Valle, J. G., Lima de Carvalho, J. R., Sun, Y. J., Levi, S. R., Ryu, J., Yang, J., Nagasaki, T., Emanuelli, A., Rasool, N., Allikmets, R., Sparrow, J. R., Izquierdo, N. J., Duncan, J. L., Mahajan, V. B., & Tsang, S. H. (2022). Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02295-9
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Kolesnikova, M., Lima de Carvalho, J. R., Parmann, R., Kim, A. H., Mahajan, V. B., Tsang, S. H., & Sparrow, J. R. (2022). Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence. Molecular Genetics & Genomic Medicine, 10(11). Portico. https://doi.org/10.1002/mgg3.2038
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Wu, W.-H., Tsai, Y.-T., Huang, I.-W., Cheng, C.-H., Hsu, C.-W., Cui, X., Ryu, J., Quinn, P. M. J., Caruso, S. M., Lin, C.-S., & Tsang, S. H. (2022). CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa. Molecular Therapy, 30(4), 1407–1420. https://doi.org/10.1016/j.ymthe.2022.02.010
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Parmann, R., Tsang, S. H., Zernant, J., Allikmets, R., Greenstein, V. C., & Sparrow, J. R. (2022). Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease. Translational Vision Science & Technology, 11(1), 36. https://doi.org/10.1167/tvst.11.1.36
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Lee, W., Zernant, J., Su, P.-Y., Nagasaki, T., Tsang, S. H., & Allikmets, R. (2022). A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes. JCI Insight, 7(2). https://doi.org/10.1172/jci.insight.156154
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Zhang, D., Robinson, K., & Washington, I. (2021). C20D3-Vitamin A Prevents Retinal Pigment Epithelium Atrophic Changes in a Mouse Model. Translational Vision Science & Technology, 10(14), 8. https://doi.org/10.1167/tvst.10.14.8
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Zhang, D., Mihai, D. M., & Washington, I. (2021). Vitamin A cycle byproducts explain retinal damage and molecular changes thought to initiate retinal degeneration. Biology Open, 10(11). https://doi.org/10.1242/bio.058600
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Balasubramanian, R., Min, X., Quinn, P. M. J., Giudice, Q. L., Tao, C., Polanco, K., Makrides, N., Peregrin, J., Bouaziz, M., Mao, Y., Wang, Q., da Costa, B. L., Buenaventura, D., Wang, F., Ma, L., Tsang, S. H., Fabre, P. J., & Zhang, X. (2021). Phase transition specified by a binary code patterns the vertebrate eye cup. Science Advances, 7(46). https://doi.org/10.1126/sciadv.abj9846
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Bakken, T. E., van Velthoven, C. T., Menon, V., Hodge, R. D., Yao, Z., Nguyen, T. N., Graybuck, L. T., Horwitz, G. D., Bertagnolli, D., Goldy, J., Yanny, A. M., Garren, E., Parry, S., Casper, T., Shehata, S. I., Barkan, E. R., Szafer, A., Levi, B. P., Dee, N., … Tasic, B. (2021). Single-cell and single-nucleus RNA-seq uncovers shared and distinct axes of variation in dorsal LGN neurons in mice, non-human primates, and humans. ELife, 10. CLOCKSS. https://doi.org/10.7554/elife.64875
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Zhang, D., Robinson, K., Saad, L., & Washington, I. (2021). Vitamin A cycle byproducts impede dark adaptation. Journal of Biological Chemistry, 297(3), 101074. https://doi.org/10.1016/j.jbc.2021.101074
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