Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Authors: Van de Sompele, Stijn, Small, Kent W., Cicekdal, Munevver Burcu, Soriano, Víctor López, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Van der Snickt, Thijs, Rey, Alfredo Dueñas, Rosseel, Toon, Van Heetvelde, Mattias, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., De Zaeytijd, Julie, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, van den Ende, Jenneke, van Schooneveld, Mary J., Gómez-Skarmeta, José Luis, Tena, Juan J., Martinez-Morales, Juan R., Liskova, Petra, Vleminckx, Kris, De Baere, Elfride

Source: In The American Journal of Human Genetics 3 November 2022 109(11):2029-2048

CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA

Authors: Small, Kent W., Tawfik, Caroline A., Udar, Nitin, Udar, Uma, Avetisjan, Jessica, El-aidy, Lamia A., Shaya, Fadi S.

Source: Retina. 42(12):2379-2387

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173137840.0x000001&indx=1&recIds=ETOCvdc_100173137840.0x000001

Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)

Authors: Small, Kent W., Jampol, Lee M., Bakall, Benjamin, Small, Leslie, Wiggins, Robert, Agemy, Steven, Udar, Nitin, Avetisjan, Jessica, Vincent, Andrea, Shaya, Fadi S.

Source: Ophthalmic genetics. 43(3):307-317

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152274993.0x000001&indx=1&recIds=ETOCvdc_100152274993.0x000001

North Carolina Macular Dystrophy: Long-term Follow-up of the Original Family

Authors: Small, Kent W., Wiggins, Robert, Udar, Nitin, Silva-Garcia, Rosemary, Avetisjan, Jessica, Vincent, Andrea, Shaya, Fadi S.

Source: In Ophthalmology Retina June 2022 6(6):512-519

CHAPTER 17 - Long-standing macular scars

Authors: Kiernan, Daniel F., Small, Kent W.

Source: In Clinical Cases in Medical Retina 2025:100-106

Methods for treating macular degeneration

Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies

Authors: Small, Kent W., Tran, Elaine M., Small, Leslie, Rao, Rajesh C., Shaya, Fadi

Source: In Ophthalmology Retina July 2019 3(7):607-614

Fungal Endophthalmitis after Intravitreal Injections of Triamcinolone Contaminated by a Compounding Pharmacy: Five-Year Follow-up of 23 Patients

Authors: Small, Kent W., Tran, Elaine M., Garabetian, Christine A., Avetisjan, Jessica, Walsh, Thomas J., Shaya, Fadi S.

Source: In Ophthalmology Retina February 2019 3(2):133-139

REPLY TO VICKERS : Pharmacogenetics and progression to neovascular age-related macular degeneration–Evidence supporting practice change

Authors: Vavvas, Demetrios G., Bάββας, Δημήτριο̨ς Γ., Small, Kent W., Awh, Carl, Zanke, Brent W., Tibshirani, Robert J., Kustra, Rafal

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Jun . 115(25), E5640-E5641.

Access URL: https://www.jstor.org/stable/26510494

CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation

Authors: Vavvas, Demetrios G., Βάββας, Δημήτριoς Γ., Small, Kent W., Awh, Carl C., Zanke, Brent W., Tibshirani, Robert J., Kustra, Rafal

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Jan . 115(4), E696-E704.

Access URL: https://www.jstor.org/stable/26506495

Macula Society Collaborative Retrospective Study of Ocriplasmin for Symptomatic Vitreomacular Adhesion

Authors: Aiello, Lloyd P., Arroyo, Jorge G., Bakri, Sophie J., Barr, Charlie C., Baumal, Caroline R., Blinder, Kevin J., Chakravarthy, Usha, Chaudhry, Nauman, Chong, Victor, Edwards, Albert O., Hunter, Allan, Elman, Michael J., Farah, Michel E., Fish, Gary, Flaxel, Christina J., Giovannini, Alfonso, Holz, Frank G., Khurana, Rahul N., Kokame, Gregg T., Lim, Jennifer I., McDonald, H. Richard, Michels, Stephan, Gary Novack, Roger L., Parodi, Maurizio Battaglia, Regillo, Carl D., Roth, Daniel B., Singerman, Lawrence J., Small, Kent W., Shaya, Fadi S., Spaide, Rickard F., Staurenghi, Giovani, Sun, Jennifer, Vavvas, Demetrios, Wykoff, Charles, Young, Lucy H.Y., Glassman, Adam R., Aiello, Lloyd Paul, Spaide, Richard F.

Source: In Ophthalmology Retina September-October 2017 1(5):413-420

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

Authors: Small, Kent W., DeLuca, Adam P., Whitmore, S. Scott, Rosenberg, Thomas, Silva-Garcia, Rosemary, Udar, Nitin, Puech, Bernard, Garcia, Charles A., Rice, Thomas A., Fishman, Gerald A., Héon, Elise, Folk, James C., Streb, Luan M., Haas, Christine M., Wiley, Luke A., Scheetz, Todd E., Fingert, John H., Mullins, Robert F., Tucker, Budd A., Stone, Edwin M.

Source: In Ophthalmology January 2016 123(1):9-18

Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.

Authors: Yuri Seo, Kwangsic Joo, Junwon Lee, Diaz, Amber, Sohyun Jang, Cherry, Timothy J., Bujakowska, Kinga M., Jinu Han, Se Joon Woo, Small, Kent W.

Source: Molecular Vision; 2024, Vol. 30, p58-66, 9p

Macular Degeneration and Aspirin Use

Authors: Small, Kent W., Garabetian, Christine A., Shaya, Fadi S.

Source: Retina. 37(9):1630-1635

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN613034089&indx=1&recIds=ETOCRN613034089

Contributors

Authors: Abdelhakim, Aliaa, Abraham, Néda, Acaba-Berrocal, Luis, Agarwal, Anita, Andreoli, Michael T., Becker, Karl N., Becker, Norbert M., Bhandari, Sanjeeb, Bharadwaj, Arthi D., Bhat, Pooja, Broadhead, Geoffrey K., Bui, Kelly, Chan, R.V. Paul, Chau, Felix, Chen, Connie J., Chen, Katherine G., Chew, Emily Y., Cole, Emily, Cui, Ricky Z., Daily, Mark J., de Carlo Forest, Talisa E., Mora, Livia Della, Nicola, Maura Di, Do, Diana V., Donley, Shannon A., Fawzi, Amani A., Fishman, Gerald A., Fogel-Levin, Meira, Francis, Andrew W., Freund, K. Bailey, Fukuyama, Hisashi, Ghoraba, Hashem, Gill, Manjot K., Goldberg, Morton F., Goldstein, Debra A., Gregori, Ninel Z., Grover, Sandeep, Heiferman, Michael J., Holekamp, Nancy M., Hyde, Robert A., Iannaccone, Alessandro, Jabbehdari, Sayena, Jayasundera, Kanishka, Johnson, Mark W., Joltikov, Katherine A., Karaca, Irmak, Keenan, Tiarnán D.L., Kiernan, Daniel F., Konstantinou, Eleni K., Lam, Byron L., Ledesma-Gil, Gerardo, Li, Angela S., Li, Ashley, Li, Yanliang, Lim, Jennifer I., Liu, Helen, Lobo, Ann-Marie, Martins, Thayze, Massengill, Michael T., Mieler, William F., Mirza, Rukhsana G., Modi, Yasha, Moore, Rose A., Munro, Monique, Naguib, Mina M., Nguyen, Quan Dong, Olsen, Timothy W., Or, Chris, Parker, Paul R., Pulido, Jose(ph) Serafin, Ramakrishnan, Meera S., Randerson, Edward L., Sabbagh, Mohammad Amr, Sadda, SriniVas, Santina, Ahmad, Sarraf, David, Schlegel, Dana, Shields, Carol, Sklar, Nathan C., Skopis, George, Small, Kent W., Smith, Stephen J., Smith, Wendy M., Sobrin, Lucia, Song, Jihun, Srivatsan, Sudarshan, Staropoli, Patrick C., Tausif, Hassan N., Thakar, Sudip D., Thomas, Catherine J., Valikodath, Nita, Ventura, Camila V., Wagley, Sushant, Wang, Daniel W., Warren, Alexis, Weng, Christina Y., Wiley, Henry E., Wilgucki, J.D., Williams, Basil K., Jr., Yannuzzi, Lawrence A., Yao, Melissa, Yehia, Madeleine Y., Young, Benjamin, Zhu, Ivy

Source: In Clinical Cases in Medical Retina 2025:vi-xiii

Onset of an Outbreak of Bipolaris hawaiiensis Fungal Endophthalmitis after Intravitreal Injections of Triamcinolone

Authors: Small, Kent W., Chan, Candy K., Silva-Garcia, Rosemary, Walsh, Thomas J.

Source: In Ophthalmology April 2014 121(4):952-958

9 - Air-fluid exchange

Authors: Small, Kent W., Shaya, Fadi Salim

Source: In Operative Techniques in Vitreoretinal Surgery 2023:83-88

The 0.19-mg Fluocinolone Acetonide Intravitreal Implant for Diabetic Macular Edema

Authors: Roth, Daniel B., Eichenbaum, David, Malik, Deepika, Radcliffe, Nathan M., Cutino, Antonio, Small, Kent W., Abdelsalam, Ahmed, Shakoor, Akbar, Moshiri, Ala, Barkmeier, Andrew, Tewari, Asheesh, Baker, Carl, Kiernan, Daniel, Rosberger, Daniel, Roth, Daniel, Eichenbaum, David, Malik, Deepika, Marcus, Dennis, Dehning, Doug, Reichel, Elias, Tilton, Elisha, Fu, Evelyn, Kokame, Gregg, Salehi-Had, Hani, Bhatt, Harit, Nielsen, Jared, Prensky, Jay, Lim, Jennifer, Adleberg, Jon, Beck, Joseph, Gunn, Joseph, Podhorzer, Joseph, Small, Kent, Kooragayala, Lakshmana, Freisberg, Lars, Schocket, Lisa, Berrocal, Maria, Worrall, Martin, Cassell, Michael, Singer, Michael, Tsipursky, Michael, Holekamp, Nancy, Weber, Pamela, Merrill, Pauline, Campochiaro, Peter, Dugel, Pravin, Khurana, Rahul, Apte, Rajendra, Rathod, Rajiv, Katz, Randy, Chace, Richard, Kwun, Robert, Grigorian, Ruben, Mansour, Sam, Chexal, Saradha, Madreperla, Steven, Gonzalez, Victor, Aldred, William

Source: Ophthalmology Retina; January 2024, Vol. 8 Issue: 1 p49-54, 6p

Two fluocinolone implants adherent to the macula and each other

Authors: Small, Kent W., Avetisjan, Jessica, Shaya, Fadi S.

Source: In American Journal of Ophthalmology Case Reports September 2022 27

Thirty-Year Follow-up of an African American Family with Macular Dystrophy of the Retina, Locus 1 (North Carolina Macular Dystrophy)

Authors: Kiernan, Daniel F., Shah, Rohan J., Hariprasad, Seenu M., Grassi, Michael A., Small, Kent W., Kiernan, Joseph P., Mieler, William F.

Source: In Ophthalmology 2011 118(7):1435-1443