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151. Evaluation of choroidal lesions with swept-source optical coherence tomography.

Author

Ung, Cindy, Laíns, Inês, Silverman, Rebecca F., Woods, Russell, Lane, Anne Marie, Papakostas, Thanos D., Husain, Deeba, Miller, Joan W., Gragoudas, Evangelos S., Kim, Ivana K., and Miller, John B.

Abstract

Aims The aim of our study was to image choroidal lesions with swept-source optical coherence tomography (SS-OCT) and to identify the morphological characteristics associated with optimal visualisation. Methods This was a prospective, cross-sectional study. Patients with choroidal melanocytic lesions <3 mm in thickness on B-scan ultrasonography were recruited. All participants underwent SS-OCT. On SS-OCT we evaluated qualitative (eg, lesion outline, detection of scleral-choroidal interface and quality of the image) and quantitative (measurement of maximum lesion thickness and the largest basal diameter) parameters. Probability of optimal image quality was examined using ordered logistic regression models. The main outcome measure was quality of the choroidal lesion images on SS-OCT, defined as: optimal, suboptimal or poor. Results We included 85 choroidal lesions of 82 patients. There were 24 choroidal lesions (29%) for which image quality was classified as optimal, 31 lesions (37%) as suboptimal and 30 lesions (36%) as poor. The factors associated with optimal image quality were distance closer to the fovea (OR 0.76, p<0.001), posterior pole location (OR 3.87, p=0.05), lower ultrasonography thickness (OR 0.44, p=0.04), lighter lesion pigmentation (OR 0.12, p=0.003) and smaller lesion diameter (OR 0.73, p<0.001). In the multivariable analysis, closer distance to the fovea (OR 0.81, p=0.005), lighter lesion pigmentation (OR 0.11, p=0.01) and smaller lesion diameter (OR 0.76, p=0.006) remained statistically significant. Conclusion SS-OCT is useful in imaging most choroidal melanocytic lesions. Image quality is best when the choroidal lesion is closer to the fovea, has a smaller diameter and a lighter choroidal pigmentation. [ABSTRACT FROM AUTHOR]

Published
2019
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152. Treatment of Refractory Acute Retinal Necrosis with Intravenous Foscarnet or Cidofovir.

Author

Stryjewski, Tomasz P., Scott, Nathan L., Barshak, Miriam B., Tobin, Ellis H., Mali, Joshua O., Young, Lucy H., Foster, C. Stephen, Kim, Ivana K., and Durand, Marlene L.

Subjects
OPHTHALMOLOGY, OPHTHALMOLOGISTS, RETINAL diseases, ANTINEOPLASTIC agents, EYE diseases
Abstract

Purpose: To report use of intravenous foscarnet or cidofovir for the treatment of refractory acute retinal necrosis (ARN).Methods: Retrospective chart review.Results: Four immunocompetent men aged 45-90 years presented with ARN from 2008-2014. One patient with two prior episodes of herpes simplex virus (HSV) ARN developed ARN after 6 years of antiviral prophylaxis. His condition worsened on acyclovir followed by intravenous foscarnet but responded to intravenous cidofovir (final VA in involved eye 20/20). Another patient with HSV ARN had received prolonged acyclovir prophylaxis for HSV keratitis; ARN improved after switching from acyclovir to intravenous foscarnet (final VA 20/125). Two patients with varicella zoster virus (VZV) ARN initially responded to acyclovir but developed fellow eye involvement 2-8 weeks later that worsened on acyclovir but responded to intravenous foscarnet (fellow eye final VA 20/20, 20/40).Conclusions: Cases of HSV or VZV ARN that worsen despite intravenous acyclovir treatment may respond to intravenous foscarnet or cidofovir. [ABSTRACT FROM AUTHOR]

Published
2018
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153. Confirmatory Cytopathology and Potential Impact on the Predictive Value of Gene Expression Profiling in Patients With Uveal Melanoma

Author

Lane, Anne Marie, Hartley, Caleb D., McCarthy, Ronan, Go, Ashley, Gragoudas, Evangelos S., Suwajanakorn, Disorn, Wu, Frances, and Kim, Ivana K.

Abstract

Purpose:To determine whether the availability of a cytopathology-confirming diagnosis is correlated with the prognostic accuracy of a gene expression profiling assay. Methods:A single-center retrospective review was performed of patients diagnosed with uveal melanoma who had a fine-needle aspiration biopsy and gene expression profiling before proton therapy from 2012 to 2020. The development of metastases was compared in patients with gene expression profiling and cytopathology (gene expression profiling+cytopathology group) and patients with gene expression profiling only (gene expression profiling only group). Results:Of 141 patients with gene expression profiling, 98 (69.5%) had cytopathology results and 43 (30.5%) did not. The median tumor thickness was greater in the gene expression profiling+cytopathology group (5.0 mm) than in the gene expression profiling only group (3.1 mm) (P= .0003). The distribution of gene expression profiling class in these 2 groups, respectively, was class 1A, 38 (38.8%) vs 20 (46.5%); class 1B, 20 (20.4%) vs 15 (34.9%); class 2, 40 (40.8%) vs 8 (18.6%). Class 1A tumors metastasized in 4 patients (10.5%) in the gene expression profiling+cytopathology group and 3 patients (15.0%) in the gene expression profiling only group. Class 1B tumors metastasized in 3 patients (15.0%) and 1 patient (6.7%), and class 2 tumors metastasized in 18 patients (45.0%) and 5 patients (62.5%) in these 2 groups, respectively. The median months from initial treatment to metastasis diagnosis within each gene expression profiling class for the gene expression profiling+cytopathology and gene expression profiling only groups, respectively, was class 1A, 36.7 vs 33.6 (P= .86); class 1B, 37.8 vs 68.6 (P= 1.0); class 2, 19.0 vs 15.8 (P= .70). Conclusions:We found no evidence that the lack of confirmatory cytology negatively affects the accuracy of gene expression profiling, and no significant differences were found in the overall rates of metastasis between patients with and patients without cytopathology or rates within each class of gene expression profiling.

Published
2024
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154. Contributors

Author

Abràmoff, Michael D., Abrams, Gary W., Afshar, Armin R., Agarwal, Aniruddha, Agarwal, Anita, Aiello, Lloyd M., Aiello, Lloyd Paul, Albert, Daniel M., Andreoli, Michael T., Armbrust, Karen R., Aronow, Mary E., Aschbrenner, Mathew W., Ávila, Marcos, Aylward, G.W., Baldwin, Andrew J., Baldwin, Angela N., Belfort, Rubens, Jr., Bennett, Jean, Bergstrom, Chris, Besirli, Cagri G., Bessette, Angela, Bhende, Muna, Bhende, Pramod S., Binder, Susanne, Bird, Alan, Blodi, Barbara A., Blumenkranz, Mark S., Boldt, H. Culver, Borkar, Durga S., Bornfeld, Norbert, Bottoni, Ferdinando, Boulton, Michael E., Bowne, Sara J., Brady, Christopher J., Brantley, Milam A., Jr., Bressler, Neil M., Bressler, Susan B., Bringmann, Andreas, Brinton, Daniel A., Brown, Gary C., Brown, Melissa M., Brunner, Simon, Burris, Christopher K.H., Bush, Ronald A., Cao, Dingcai, Capone, Antonio, Jr., Carruthers, David, Cavallerano, Jerry D., Chakravarthy, Usha, Chan, Helen, Charles, Steve, Charteris, David G., Chen, Jeannie, Cheung, Carol Yim-lui, Chew, Emily Y., Chiang, Allen, Chiang, Michael F., Chundury, Rao V., Clegg, Dennis O., Constable, Ian J., Coscas, Gabriel, Cruess, Alan F., Cunningham, Emmett T., Jr., Curcio, Christine A., Daiger, Stephen P., Damato, Bertil E., Das, Sudipta, Davis, Janet L., Davis, Matthew D., Day, Shelley, de Amorim, Carlos Alexandre, De Potter, Patrick, de Smet, Marc D., Denniston, Alastair K., Dhaliwal, Ranjit S., Dick, Andrew D., Ding, Xiaoyan, Do, Diana V., Duker, Jay S., Duncan, Jacque L., Ehlers, Justis P., Eliott, Dean, Faia, Lisa J., Falsini, Benedetto, Fekrat, Sharon, Feldon, Steven E., Ferreyra, Henry A., Ferrington, Deborah A., Ferris, Frederick L., III, Finger, Paul T., Fisher, Steven K., Fishman, Gerald A., Fleckenstein, Monika, Flynn, Harry W., Jr., Foulds, Wallace S., Fox, Austin R., Freeman, William R., Friedlander, Martin, Frishman, Laura J., Fu, Arthur D., Gamm, David M., Garcia-Valenzuela, Enrique, Garg, Sunir J., Gaudric, Alain, Gayed, Mary, Gerding, Heinrich, Giani, Andrea, Goldberg, Morton F., Gopal, Lingam, Gordon, Caroline, Goto, Hiroshi, Gragoudas, Evangelos S., Grant, Maria B., Gregg, Ronald G., Gregory-Evans, Kevin, Groenewald, Carl, Grossniklaus, Hans E., Grover, Sandeep, Gullapalli, Vamsi K., Guthoff, Rudolf F., Gutkind, J. Silvio, Hahn, Paul, Haller, Julia A., Handa, James T., Haritoglou, Christos, Haug, Sara, Hawkins, Barbara S., He, Shikun, Herwig-Carl, Martina C., Heussen, Florian M.A., Hinton, David R., Hodgson, Nickisa M., Holz, Frank G., Houston, Samuel K., Hui, Yan-Nian, Humayun, Mark S., Ikuno, Yasushi, Isaac, David, Ishibashi, Tatsuro, Jabs, Douglas A., Jaffe, Glenn J., Jampol, Lee M., Joffe, Leonard, Johnson, Mark, Johnson, Mark W., Johnson, Robert N., Joussen, Antonia M., Julian, Karina, Jumper, J. Michael, Kaiser, Peter K., Kamermans, Maarten, Kampik, Anselm, Karanjia, Rustum, Kashani, Amir H., Keane, Pearse A., Kenney, M. Cristina, Khaderi, S. Khizer R., Khodair, Mohamad A., Kim, Ivana K., Kim, Jonathan W., Kim, Tae Wan, Kirchhof, Bernd, Kiss, Szilard, Klein, Barbara E.K., Klein, Ronald, Klufas, Michael A., Kolomeyer, Anton M., Konstantinidis, Lazaros, Kowluru, Renu, Kozak, Igor, Kuppermann, Baruch D., Kuriyan, Ajay E., Labriola, Leanne T., Lam, Dennis, Lam, Linda A., Lane, Anne Marie, Lavik, Erin B., Leary, James F., Lee, Richard W.J., Lee, Sun Young, Lee, Thomas C., Lee, Vincent, Leung, Loh-Shan B., Lewis, Geoffrey P., Leys, Anita, Li, Xiaoxin, Liakopoulos, Sandra, Lin, Chang-Ping, Lin, Phoebe, Liu, Enchun M., Liu, Shirley, Lois, Noemi, London, Nikolas J.S., Lu, Lin, Lujan, Brandon J., Luo, Yan, Lutty, Gerard A., MacLaren, Robert, Madreperla, Steven, Maguire, Albert M., Mainster, Martin A., Mansfield, Nancy C., Markoe, Arnold M., Marmor, Michael F., Martin, Daniel F., Massey, Stephen C., McCall, Maureen A., McCannel, Tara A., McCutchan, J. Allen, McDonald, H. Richard, Meier, Petra, Meredith, Travis A., Meyer, Carsten H., Mieler, William F., Miller, Joan W., Mirza, Rukhsana G., Mitter, Sayak K., Mittra, Robert A., Miyake, Yozo, Montemagno, Carlo, Moore, Anthony T., Mruthyunjaya, Prithvi, Muccioli, Cristina, Mullins, Robert F., Murphree, A. Linn, Murphy, Robert P., Murray, Philip I., Murray, Timothy G., Nagpal, Manish, Namperumalsamy, Perumalsamy, Nanda, Sumit K., Nazari, Hossein, Nguyen, Quan Dong, Nussenblatt, Robert B., Oellers, Patrick, Ohji, Masahito, Ohno-Matsui, Kyoko, Palanker, Daniel, Papakostas, Thanos D., Patel, Avni V., Patel, Purnima S., Pavlick, Anna C., Pay, S. Louise, Peereboom, David M., Pennesi, Mark E., Pepose, Jay S., Perry, Julian D., Quiram, Polly A., Raman, Rajiv, Ramchandran, Rajeev S., Rao, P. Kumar, Rao, Narsing A., Rathinam, Sivakumar R., Recchia, Franco M., Redmond, Kristin J., Reed, David, Reh, Thomas A., Reichenbach, Andreas, Rezaei, Kourous A., Rhoades, William R., Rhodes, Benjamin, Ritch, Robert, Robson, Anthony G., Rosenfeld, Philip J., Rowland, Teisha J., Rubin, Gary S., Sadda, SriniVas R., Sadun, Alfredo A., Sampath, Alapakkam P., Sangave, Amit A., Schachat, Andrew P., Schechet, Sid, Schmitz-Valckenberg, Steffen, Schwartz, Stephen G., Scott, Adrienne W., Sebag, J., Seddon, Johanna M., Seider, Michael I., Sen, H. Nida, Sepah, Yasir Jamal, Sharma, Sanjay, Sharma, Tarun, Sheu, Shwu-Jiuan, Shields, Carol L., Shields, Jerry A., Shinoda, Kei, Shukla, Dhananjay, Sieving, Paul A., Silva, Paolo S., Silveira, Claudio, Singer, Joshua, Singh, Arun D., Skalet, Alison, Skugor, Mario, Smith, Sylvia B., Sobrin, Lucia, Sodhi, Akrit, Sohn, Elliott H., Soubrane-Daguet, Gisèle, Spielberg, Leigh, Srivastava, Sunil K., Stachs, Oliver, Staurenghi, Giovanni, Sternberg, Paul, Jr., Stewart, Jay M., Stitt, Alan, Stone, Edwin M., Sugino, Ilene K., Sullivan, Lori S., Sullivan, Paul, Sun, Jennifer K., Sunness, Janet S., Symons, R.C. Andrew, Tadayoni, Ramin, Tang, Shibo, Terasaki, Hiroko, Thanos, Aristomenis, Thomas, Matthew A., Thompson, John T., Toth, Cynthia A., Toy, Brian, Trese, Michael T., Tsai, Julie H., Udar, Nitin, Ulrich, J. Niklas, Umfress, Allison C., Van Gelder, Russell N., van Meurs, Jan C., Vasconcelos-Santos, Daniel Vítor, Vavvas, Demetrios G., Vemulakonda, G. Atma, Waheed, Nadia K., Weiland, James, Weleber, Richard G., Wenick, Adam S., Wharam, Moody D., Jr., Wickham, Louisa, Wiedemann, Peter, Wiley, Henry E., Wilkinson, C.P., Wilson, David, Wolf, Sebastian, Wolfensberger, Thomas J., Wong, David, Wong, Ian Y., Wong, Tien Y., Wu, Frances, Yandiev, Yanors, Yang, Chang-Hao, Yang, Chung-May, Yannuzzi, Lawrence A., Yeh, Po-Ting, Yonekawa, Yoshihiro, Yoon, Young Hee, Yu, Hyeong Gon, Zarbin, Marco A., Zhang, Kang, Zhu, Jie, and Zinkernagel, Martin

Published
2018
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155. Unilateral Eye Findings: A Rare Herald of Acute Leukemia

Author

Patel, Avni V., primary, Miller, John B., additional, Nath, Rajneesh, additional, Shih, Helen A., additional, Yoon, Michael K., additional, Freitag, Suzanne K., additional, Papaliodis, George, additional, Chen, Teresa C., additional, Eliott, Dean, additional, and Kim, Ivana K., additional

Published
2016
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156. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, Lars G, primary, Igl, Wilmar, additional, Bailey, Jessica N Cooke, additional, Grassmann, Felix, additional, Sengupta, Sebanti, additional, Bragg-Gresham, Jennifer L, additional, Burdon, Kathryn P, additional, Hebbring, Scott J, additional, Wen, Cindy, additional, Gorski, Mathias, additional, Kim, Ivana K, additional, Cho, David, additional, Zack, Donald, additional, Souied, Eric, additional, Scholl, Hendrik P N, additional, Bala, Elisa, additional, Lee, Kristine E, additional, Hunter, David J, additional, Sardell, Rebecca J, additional, Mitchell, Paul, additional, Merriam, Joanna E, additional, Cipriani, Valentina, additional, Hoffman, Joshua D, additional, Schick, Tina, additional, Lechanteur, Yara T E, additional, Guymer, Robyn H, additional, Johnson, Matthew P, additional, Jiang, Yingda, additional, Stanton, Chloe M, additional, Buitendijk, Gabriëlle H S, additional, Zhan, Xiaowei, additional, Kwong, Alan M, additional, Boleda, Alexis, additional, Brooks, Matthew, additional, Gieser, Linn, additional, Ratnapriya, Rinki, additional, Branham, Kari E, additional, Foerster, Johanna R, additional, Heckenlively, John R, additional, Othman, Mohammad I, additional, Vote, Brendan J, additional, Liang, Helena Hai, additional, Souzeau, Emmanuelle, additional, McAllister, Ian L, additional, Isaacs, Timothy, additional, Hall, Janette, additional, Lake, Stewart, additional, Mackey, David A, additional, Constable, Ian J, additional, Craig, Jamie E, additional, Kitchner, Terrie E, additional, Yang, Zhenglin, additional, Su, Zhiguang, additional, Luo, Hongrong, additional, Chen, Daniel, additional, Ouyang, Hong, additional, Flagg, Ken, additional, Lin, Danni, additional, Mao, Guanping, additional, Ferreyra, Henry, additional, Stark, Klaus, additional, von Strachwitz, Claudia N, additional, Wolf, Armin, additional, Brandl, Caroline, additional, Rudolph, Guenther, additional, Olden, Matthias, additional, Morrison, Margaux A, additional, Morgan, Denise J, additional, Schu, Matthew, additional, Ahn, Jeeyun, additional, Silvestri, Giuliana, additional, Tsironi, Evangelia E, additional, Park, Kyu Hyung, additional, Farrer, Lindsay A, additional, Orlin, Anton, additional, Brucker, Alexander, additional, Li, Mingyao, additional, Curcio, Christine A, additional, Mohand-Saïd, Saddek, additional, Sahel, José-Alain, additional, Audo, Isabelle, additional, Benchaboune, Mustapha, additional, Cree, Angela J, additional, Rennie, Christina A, additional, Goverdhan, Srinivas V, additional, Grunin, Michelle, additional, Hagbi-Levi, Shira, additional, Campochiaro, Peter, additional, Katsanis, Nicholas, additional, Holz, Frank G, additional, Blond, Frédéric, additional, Blanché, Hélène, additional, Deleuze, Jean-François, additional, Igo, Robert P, additional, Truitt, Barbara, additional, Peachey, Neal S, additional, Meuer, Stacy M, additional, Myers, Chelsea E, additional, Moore, Emily L, additional, Klein, Ronald, additional, Hauser, Michael A, additional, Postel, Eric A, additional, Courtenay, Monique D, additional, Schwartz, Stephen G, additional, Kovach, Jaclyn L, additional, Scott, William K, additional, Liew, Gerald, additional, Tan, Ava G, additional, Gopinath, Bamini, additional, Merriam, John C, additional, Smith, R Theodore, additional, Khan, Jane C, additional, Shahid, Humma, additional, Moore, Anthony T, additional, McGrath, J Allie, additional, Laux, Reneé, additional, Brantley, Milam A, additional, Agarwal, Anita, additional, Ersoy, Lebriz, additional, Caramoy, Albert, additional, Langmann, Thomas, additional, Saksens, Nicole T M, additional, de Jong, Eiko K, additional, Hoyng, Carel B, additional, Cain, Melinda S, additional, Richardson, Andrea J, additional, Martin, Tammy M, additional, Blangero, John, additional, Weeks, Daniel E, additional, Dhillon, Bal, additional, van Duijn, Cornelia M, additional, Doheny, Kimberly F, additional, Romm, Jane, additional, Klaver, Caroline C W, additional, Hayward, Caroline, additional, Gorin, Michael B, additional, Klein, Michael L, additional, Baird, Paul N, additional, den Hollander, Anneke I, additional, Fauser, Sascha, additional, Yates, John R W, additional, Allikmets, Rando, additional, Wang, Jie Jin, additional, Schaumberg, Debra A, additional, Klein, Barbara E K, additional, Hagstrom, Stephanie A, additional, Chowers, Itay, additional, Lotery, Andrew J, additional, Léveillard, Thierry, additional, Zhang, Kang, additional, Brilliant, Murray H, additional, Hewitt, Alex W, additional, Swaroop, Anand, additional, Chew, Emily Y, additional, Pericak-Vance, Margaret A, additional, DeAngelis, Margaret, additional, Stambolian, Dwight, additional, Haines, Jonathan L, additional, Iyengar, Sudha K, additional, Weber, Bernhard H F, additional, Abecasis, Gonçalo R, additional, and Heid, Iris M, additional

Published
2015
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157. Abstract A1-15: Systematic genomic characterization of uveal melanoma

Author

Place, Chelsea S., primary, Kim, Ivana K., additional, Esmaeli, Bita, additional, Amin-Mansour, Ali, additional, Treacy, Daniel J., additional, Carter, Scott L., additional, Hodis, Eran, additional, Wagle, Nikhil, additional, Seepo, Sara, additional, Yu, Xiaoxing, additional, Vazquez, Francisca, additional, Nickerson, Elizabeth, additional, Cibulskis, Kristian, additional, McKenna, Aaron, additional, Gabriel, Stacey B., additional, Getz, Gad, additional, Allen, Eliezer M. Van, additional, Garraway, Levi A., additional, and Woodman, Scott E., additional

Published
2015
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158. Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

Author

Morrison, Margaux A., primary, Magalhaes, Tiago R., additional, Ramke, Jacqueline, additional, Smith, Silvia E., additional, Ennis, Sean, additional, Simpson, Claire L., additional, Portas, Laura, additional, Murgia, Federico, additional, Ahn, Jeeyun, additional, Dardenne, Caitlin, additional, Mayne, Katie, additional, Robinson, Rosann, additional, Morgan, Denise J., additional, Brian, Garry, additional, Lee, Lucy, additional, Woo, Se J., additional, Zacharaki, Fani, additional, Tsironi, Evangelia E., additional, Miller, Joan W., additional, Kim, Ivana K., additional, Park, Kyu H., additional, Bailey-Wilson, Joan E., additional, Farrer, Lindsay A., additional, Stambolian, Dwight, additional, and DeAngelis, Margaret M., additional

Published
2015
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159. Novel grid combined with peripheral distortion correction for ultra-widefield image grading of age-related macular degeneration.

Author

Oellers, Patrick, Laíns, Inês, Mach, Steven, Garas, Shady, Kim, Ivana K., Vavvas, Demetrios G., Miller, Joan W., Husain, Deeba, and Miller, John B.

Subjects
RETINAL degeneration, RETINAL imaging, ATROPHY, PATHOLOGY, BIOFLUORESCENCE, PATIENTS
Abstract

Purpose: Eyes with age-related macular degeneration (AMD) often harbor pathological changes in the retinal periphery and perimacular region. These extramacular changes have not been well classified, but may be phenotypically and functionally relevant. The purpose of this study was to demonstrate a novel grid to systematically study peripheral retinal abnormalities in AMD using geometric distortion-corrected ultra-widefield (UWF) imaging. Methods: This is a cross-sectional observational case series. Consecutive patients with AMD without any other coexisting vitreoretinal disease and control patients over age 50 without AMD or any other vitreoretinal disease were imaged using Optos 200 Tx. Captured 200° UWF images were corrected for peripheral geometric distortion using Optos transformation software. A newly developed grid to study perimacular and peripheral abnormalities in AMD was then projected onto the images. Results: Peripheral and perimacular changes such as drusen, retinal pigment epithelium changes and atrophy were found in patients with AMD. The presented grid in conjunction with geometric distortion-corrected UWF images allowed for systematic study of these peripheral changes in AMD. Conclusion: We present a novel grid to study peripheral and posterior pole changes in AMD. The grid is unique in that it adds a perimacular zone, which may be important in characterizing certain phenotypes in AMD. Our UWF images were corrected for geometric peripheral distortion to accurately reflect the anatomical dimensions of the retina. This grid offers a reliable and reproducible foundation for the exploration of peripheral retinal pathology associated with AMD. [ABSTRACT FROM AUTHOR]

Published
2017
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160. Author reply

Author

Awh, Carl C., primary, Lane, Anne Marie, additional, Hawken, Steven, additional, Zanke, Brent, additional, and Kim, Ivana K., additional

Published
2014
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162. FLT1Genetic Variation Predisposes to Neovascular AMD in Ethnically Diverse Populations and Alters Systemic FLT1 Expression

Author

Owen, Leah A., primary, Morrison, Margaux A., additional, Ahn, Jeeyun, additional, Woo, Se Joon, additional, Sato, Hajime, additional, Robinson, Rosann, additional, Morgan, Denise J., additional, Zacharaki, Fani, additional, Simeonova, Marina, additional, Uehara, Hironori, additional, Chakravarthy, Usha, additional, Hogg, Ruth E., additional, Ambati, Balamurali K., additional, Kotoula, Maria, additional, Baehr, Wolfgang, additional, Haider, Neena B., additional, Silvestri, Giuliana, additional, Miller, Joan W., additional, Tsironi, Evangelia E., additional, Farrer, Lindsay A., additional, Kim, Ivana K., additional, Park, Kyu Hyung, additional, and DeAngelis, Margaret M., additional

Published
2014
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165. Choroidal thickness and vascular density in macular telangiectasia type 2 using enfaceswept-source optical coherence tomography

Author

Wang, Jay C, Laíns, Inês, Oellers, Patrick, Kim, Ivana K, Miller, Joan W, and Miller, John B

Abstract

PurposeTo investigate the choroidal thickness (CT) and choroidal vascular densities (CVD) of patients with macular telangiectasia type 2 (MacTel2) and their association with other multimodal imaging features, using swept-source optical coherence tomography (SS-OCT).MethodsProspective, cross-sectional study. Consecutive patients with MacTel2 along with controls without any macular disease were included. Fundus photography, confocal blue reflectance, near-infrared reflectance, autofluorescence, fluorescein angiography, spectral domain OCT and SS-OCT were performed. Images were independently analysed by two graders, and CVD was calculated from binarised en faceSS-OCT images. CT was obtained from the SS-OCT platform via built-in automated segmentation. Multilevel mixed-effects models were used for statistical analysis.ResultsThirty-nine eyes of 20 patients with MacTel2 and 29 eyes of 15 control patients were included. Average CT and perifoveal temporal CT did not differ significantly between eyes with MacTel2 and control eyes (p≥0.350), when accounting for confounding factors. Overall and temporal CVD also did not significantly differ between the two groups (p≥0.490).ConclusionCT and CVD did not significantly differ between MacTel2 and control eyes in this study using SS-OCT. Even though MacTel2 may include abnormalities involving the choroid, these are likely minor in comparison to the predominant retinal changes.

Published
2019
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166. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Author

Zhan, Xiaowei, primary, Larson, David E, additional, Wang, Chaolong, additional, Koboldt, Daniel C, additional, Sergeev, Yuri V, additional, Fulton, Robert S, additional, Fulton, Lucinda L, additional, Fronick, Catrina C, additional, Branham, Kari E, additional, Bragg-Gresham, Jennifer, additional, Jun, Goo, additional, Hu, Youna, additional, Kang, Hyun Min, additional, Liu, Dajiang, additional, Othman, Mohammad, additional, Brooks, Matthew, additional, Ratnapriya, Rinki, additional, Boleda, Alexis, additional, Grassmann, Felix, additional, von Strachwitz, Claudia, additional, Olson, Lana M, additional, Buitendijk, Gabriëlle H S, additional, Hofman, Albert, additional, van Duijn, Cornelia M, additional, Cipriani, Valentina, additional, Moore, Anthony T, additional, Shahid, Humma, additional, Jiang, Yingda, additional, Conley, Yvette P, additional, Morgan, Denise J, additional, Kim, Ivana K, additional, Johnson, Matthew P, additional, Cantsilieris, Stuart, additional, Richardson, Andrea J, additional, Guymer, Robyn H, additional, Luo, Hongrong, additional, Ouyang, Hong, additional, Licht, Christoph, additional, Pluthero, Fred G, additional, Zhang, Mindy M, additional, Zhang, Kang, additional, Baird, Paul N, additional, Blangero, John, additional, Klein, Michael L, additional, Farrer, Lindsay A, additional, DeAngelis, Margaret M, additional, Weeks, Daniel E, additional, Gorin, Michael B, additional, Yates, John R W, additional, Klaver, Caroline C W, additional, Pericak-Vance, Margaret A, additional, Haines, Jonathan L, additional, Weber, Bernhard H F, additional, Wilson, Richard K, additional, Heckenlively, John R, additional, Chew, Emily Y, additional, Stambolian, Dwight, additional, Mardis, Elaine R, additional, Swaroop, Anand, additional, and Abecasis, Goncalo R, additional

Published
2013
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171. High Throughput Mass Spectrometry-Based Mutation Profiling of Primary Uveal Melanoma

Author

Daniels, Anthony B., primary, Lee, Joo-Eun, additional, MacConaill, Laura E., additional, Palescandolo, Emanuele, additional, Van Hummelen, Paul, additional, Adams, Scott M., additional, DeAngelis, Margaret M., additional, Hahn, William C., additional, Gragoudas, Evangelos S., additional, Harbour, J. William, additional, Garraway, Levi A., additional, and Kim, Ivana K., additional

Published
2012
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173. Integrating genetics and metabolomics from multi-ethnic and multi-fluid data reveals putative mechanisms for age-related macular degeneration

Author

Han, Xikun, Lains, Ines, Li, Jun, Li, Jinglun, Chen, Yiheng, Yu, Bing, Qi, Qibin, Boerwinkle, Eric, Kaplan, Robert, Thyagarajan, Bharat, Daviglus, Martha, Joslin, Charlotte E., Cai, Jianwen, Guasch-Ferré, Marta, Tobias, Deirdre K., Rimm, Eric, Ascherio, Alberto, Costenbader, Karen, Karlson, Elizabeth, Mucci, Lorelei, Eliassen, A. Heather, Zeleznik, Oana, Miller, John, Vavvas, Demetrios G., Kim, Ivana K., Silva, Rufino, Miller, Joan, Hu, Frank, Willett, Walter, Lasky-Su, Jessica, Kraft, Peter, Richards, J. Brent, MacGregor, Stuart, Husain, Deeba, and Liang, Liming

Abstract

Age-related macular degeneration (AMD) is a leading cause of blindness in older adults. Investigating shared genetic components between metabolites and AMD can enhance our understanding of its pathogenesis. We conduct metabolite genome-wide association studies (mGWASs) using multi-ethnic genetic and metabolomic data from up to 28,000 participants. With bidirectional Mendelian randomization analysis involving 16,144 advanced AMD cases and 17,832 controls, we identify 108 putatively causal relationships between plasma metabolites and advanced AMD. These metabolites are enriched in glycerophospholipid metabolism, lysophospholipid, triradylcglycerol, and long chain polyunsaturated fatty acid pathways. Bayesian genetic colocalization analysis and a customized metabolome-wide association approach prioritize putative causal AMD-associated metabolites. We find limited evidence linking urine metabolites to AMD risk. Our study emphasizes the contribution of plasma metabolites, particularly lipid-related pathways and genes, to AMD risk and uncovers numerous putative causal associations between metabolites and AMD risk.

Published
2023
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175. Influence of ROBO1 and RORA on Risk of Age-Related Macular Degeneration Reveals Genetically Distinct Phenotypes in Disease Pathophysiology

Author

Jun, Gyungah, primary, Nicolaou, Michael, additional, Morrison, Margaux A., additional, Buros, Jacqueline, additional, Morgan, Denise J., additional, Radeke, Monte J., additional, Yonekawa, Yoshihiro, additional, Tsironi, Evangelia E., additional, Kotoula, Maria G., additional, Zacharaki, Fani, additional, Mollema, Nissa, additional, Yuan, Yang, additional, Miller, Joan W., additional, Haider, Neena B., additional, Hageman, Gregory S., additional, Kim, Ivana K., additional, Schaumberg, Debra A., additional, Farrer, Lindsay A., additional, and DeAngelis, Margaret M., additional

Published
2011
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180. Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration

Author

Morrison, Margaux A, primary, Silveira, Alexandra C, additional, Huynh, Nancy, additional, Jun, Gyungah, additional, Smith, Silvia E, additional, Zacharaki, Fani, additional, Sato, Hajime, additional, Loomis, Stephanie, additional, Andreoli, Michael T, additional, Adams, Scott M, additional, Radeke, Monte J, additional, Jelcick, Austin S, additional, Yuan, Yang, additional, Tsiloulis, Aristoteles N, additional, Chatzoulis, Dimitrios Z, additional, Silvestri, Giuliana, additional, Kotoula, Maria G, additional, Tsironi, Evangelia E, additional, Hollis, Bruce W, additional, Chen, Rui, additional, Haider, Neena B, additional, Miller, Joan W, additional, Farrer, Lindsay A, additional, Hageman, Gregory S, additional, Kim, Ivana K, additional, Schaumberg, Debra A, additional, and DeAngelis, Margaret M, additional

Published
2011
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185. Ocular Melanocytoma

Author

Esmaili, Daniel D., primary, Mukai, Shizuo, additional, Jakobiec, Frederick A., additional, Kim, Ivana K., additional, and Gragoudas, Evangelos S., additional

Published
2009
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186. The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration

Author

Zhang, Hong, primary, Morrison, Margaux A, additional, DeWan, Andy, additional, Adams, Scott, additional, Andreoli, Michael, additional, Huynh, Nancy, additional, Regan, Maureen, additional, Brown, Alison, additional, Miller, Joan W, additional, Kim, Ivana K, additional, Hoh, Josephine, additional, and DeAngelis, Margaret M, additional

Published
2008
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187. Increased Choroidal Neovascularization following Laser Induction in Mice Lacking Lysyl Oxidase-like 1

Author

Yu, Hyeong Gon, primary, Liu, Xiaoqing, additional, Kiss, Szilard, additional, Connolly, Edward, additional, Gragoudas, Evangelos S., additional, Michaud, Norman A., additional, Bulgakov, Oleg V., additional, Adamian, Michael, additional, DeAngelis, Margaret M., additional, Miller, Joan W., additional, Li, Tiansen, additional, and Kim, Ivana K., additional

Published
2008
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188. Characterization of Azurocidin as a Permeability Factor in the Retina: Involvement in VEGF-Induced and Early Diabetic Blood-Retinal Barrier Breakdown

Author

Skondra, Dimitra, primary, Noda, Kousuke, additional, Almulki, Lama, additional, Tayyari, Faryan, additional, Frimmel, Sonja, additional, Nakazawa, Toru, additional, Kim, Ivana K., additional, Zandi, Souska, additional, Thomas, Kennard L., additional, Miller, Joan W., additional, Gragoudas, Evangelos S., additional, and Hafezi-Moghadam, Ali, additional

Published
2008
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189. Effect of Intravitreal Injection of Ranibizumab in Combination with Verteporfin PDT on Normal Primate Retina and Choroid

Author

Kim, Ivana K., primary, Husain, Deeba, additional, Michaud, Norman, additional, Connolly, Edward, additional, Lane, Anne Marie, additional, Durrani, Khayyam, additional, Hafezi-Moghadam, Ali, additional, Gragoudas, Evangelos S., additional, O’Neill, Charles A., additional, Beyer, Joseph C., additional, and Miller, Joan W., additional

Published
2006
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192. Proton beam irradiation for non-AMD CNV: 2-year results of a randomised clinical trial.

Author

Ling Chen, Kim, Ivana K., Lane, Anne M., Gauthier, Danny, Munzenrider, John E., Gragoudas, Evangelos S., and Miller, Joan W.

Subjects
*PROTON beams, *IRRADIATION, *RETINAL degeneration, *FLUORESCENCE angiography, *FUNDUS oculi, *NEOVASCULARIZATION, *OPHTHALMIC photography, *VISUAL acuity
Abstract

Aims To evaluate safety and visual outcomes after proton beam irradiation (PBI) therapy for subfoveal choroidal neovascularisation (CNV) secondary to causes other than age-related macular degeneration (AMD). Methods This study is a prospective, unmasked and randomised clinical trial using two dosage regimens, conducted in the Massachusetts Eye and Ear Infirmary. The study included 46 patients with CNV secondary to non-AMD and best-corrected visual acuity of 20/320 or better. Patients were randomly assigned to receive 16 or 24 cobalt gray equivalents (CGE) of PBI in two equal fractions. Complete ophthalmological examinations, fundus photography and fluorescein angiography were performed at baseline and 6, 12, 18 and 24 months after treatment. Results At 1 year after treatment, 82% and 72% lost fewer than 1.5 lines of vision in the 16 CGE and in 24 CGE groups, respectively. At 2 years after therapy, 77% in the lower dose group and 64% in the higher dose group lost fewer than 1.5 lines of vision. Mild radiation complications such as radiation vasculopathy developed in 17.6% of patients. Conclusions PBI is a safe and efficacious treatment for subfoveal CNV not due to AMD. The data with respect to visual outcomes and radiation complications trend in favour of the 16 CGE group, although differences do not reach statistical significance. PBI may be considered as an alternative to current therapies. [ABSTRACT FROM AUTHOR]

Published
2014
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193. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, Lars G, Igl, Wilmar, Bailey, Jessica N Cooke, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L, Burdon, Kathryn P, Hebbring, Scott J, Wen, Cindy, Gorski, Mathias, Kim, Ivana K, Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P N, Bala, Elisa, Lee, Kristine E, Hunter, David J, Sardell, Rebecca J, Mitchell, Paul, Merriam, Joanna E, Cipriani, Valentina, Hoffman, Joshua D, Schick, Tina, Lechanteur, Yara T E, Guymer, Robyn H, Johnson, Matthew P, Jiang, Yingda, Stanton, Chloe M, Buitendijk, Gabriëlle H S, Zhan, Xiaowei, Kwong, Alan M, Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E, Foerster, Johanna R, Heckenlively, John R, Othman, Mohammad I, Vote, Brendan J, Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L, Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A, Constable, Ian J, Craig, Jamie E, Kitchner, Terrie E, Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N, Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A, Morgan, Denise J, Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E, Park, Kyu Hyung, Farrer, Lindsay A, Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J, Rennie, Christina A, Goverdhan, Srinivas V, Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G, Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P, Truitt, Barbara, Peachey, Neal S, Meuer, Stacy M, Myers, Chelsea E, Moore, Emily L, Klein, Ronald, Hauser, Michael A, Postel, Eric A, Courtenay, Monique D, Schwartz, Stephen G, Kovach, Jaclyn L, Scott, William K, Liew, Gerald, Tan, Ava G, Gopinath, Bamini, Merriam, John C, Smith, R Theodore, Khan, Jane C, Shahid, Humma, Moore, Anthony T, McGrath, J Allie, Laux, Reneé, Brantley, Milam A, Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T M, de Jong, Eiko K, Hoyng, Carel B, Cain, Melinda S, Richardson, Andrea J, Martin, Tammy M, Blangero, John, Weeks, Daniel E, Dhillon, Bal, van Duijn, Cornelia M, Doheny, Kimberly F, Romm, Jane, Klaver, Caroline C W, Hayward, Caroline, Gorin, Michael B, Klein, Michael L, Baird, Paul N, den Hollander, Anneke I, Fauser, Sascha, Yates, John R W, Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A, Klein, Barbara E K, Hagstrom, Stephanie A, Chowers, Itay, Lotery, Andrew J, Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H, Hewitt, Alex W, Swaroop, Anand, Chew, Emily Y, Pericak-Vance, Margaret A, DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L, Iyengar, Sudha K, Weber, Bernhard H F, Abecasis, Gonçalo R, and Heid, Iris M

Abstract

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10−8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10−10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

Published
2016
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194. Systematic genomic and translational efficiency studies of uveal melanoma

Author

Johnson, Chelsea Place, Kim, Ivana K., Esmaeli, Bita, Amin-Mansour, Ali, Treacy, Daniel J., Carter, Scott L., Hodis, Eran, Wagle, Nikhil, Seepo, Sara, Yu, Xiaoxing, Lane, Anne Marie, Gragoudas, Evangelos S., Vazquez, Francisca, Nickerson, Elizabeth, Cibulskis, Kristian, McKenna, Aaron, Gabriel, Stacey B., Getz, Gad, Van Allen, Eliezer M., ‘t Hoen, Peter A. C., Garraway, Levi A., and Woodman, Scott E.

Subjects
Biology and Life Sciences, Genetics, Mutation, Somatic Mutation, Medicine and Health Sciences, Oncology, Cancers and Neoplasms, Melanomas, Gene Expression, Protein Translation, Frameshift Mutation, Biochemistry, Ribosomes, Polyribosomes, Cell Biology, Cellular Structures and Organelles, Biology and life sciences, Nucleic acids, RNA, Messenger RNA, Metastasis, Basic Cancer Research
Abstract

To further our understanding of the somatic genetic basis of uveal melanoma, we sequenced the protein-coding regions of 52 primary tumors and 3 liver metastases together with paired normal DNA. Known recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1. The role of mutated EIF1AX was tested using loss of function approaches including viability and translational efficiency assays. Knockdown of both wild type and mutant EIF1AX was lethal to uveal melanoma cells. We probed the function of N-terminal tail EIF1AX mutations by performing RNA sequencing of polysome-associated transcripts in cells expressing endogenous wild type or mutant EIF1AX. Ribosome occupancy of the global translational apparatus was sensitive to suppression of wild type but not mutant EIF1AX. Together, these studies suggest that cells expressing mutant EIF1AX may exhibit aberrant translational regulation, which may provide clonal selective advantage in the subset of uveal melanoma that harbors this mutation.

Published
2017
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195. Human plasma metabolomics in age-related macular degeneration (AMD) using nuclear magnetic resonance spectroscopy

Author

Laíns, Inês, Duarte, Daniela, Barros, António S., Martins, Ana Sofia, Gil, João, Miller, John B., Marques, Marco, Mesquita, Tânia, Kim, Ivana K., Cachulo, Maria da Luz, Vavvas, Demetrios, Carreira, Isabel M., Murta, Joaquim N., Silva, Rufino, Miller, Joan W., Husain, Deeba, and Gil, Ana M.

Subjects
Biology and Life Sciences, Biochemistry, Metabolism, Metabolomics, Medicine and Health Sciences, Geriatrics, Geriatric Ophthalmology, Macular Degeneration, Ophthalmology, Retinal Disorders, Macular Disorders, Retinal Degeneration, Metabolites, Anatomy, Body Fluids, Blood, Blood Plasma, Physiology, Spectrum analysis techniques, NMR spectroscopy, Lipids, Fatty Acids, Physical Sciences, Chemistry, Chemical Compounds, Sulfones
Abstract

Purpose To differentiate the plasma metabolomic profile of patients with age related macular degeneration (AMD) from that of controls, by Nuclear Magnetic Resonance (NMR) spectroscopy. Methods: Two cohorts (total of 396 subjects) representative of central Portugal and Boston, USA phenotypes were studied. For each cohort, subjects were grouped according to AMD stage (early, intermediate and late). Multivariate analysis of plasma NMR spectra was performed, followed by signal integration and univariate analysis. Results: Small changes were detected in the levels of some amino acids, organic acids, dimethyl sulfone and specific lipid moieties, thus providing some biochemical information on the disease. The possible confounding effects of gender, smoking history and age were assessed in each cohort and found to be minimal when compared to that of the disease. A similar observation was noted in relation to age-related comorbidities. Furthermore, partially distinct putative AMD metabolite fingerprints were noted for the two cohorts studied, reflecting the importance of nutritional and other lifestyle habits in determining AMD metabolic response and potential biomarker fingerprints. Notably, some of the metabolite changes detected were noted as potentially differentiating controls from patients diagnosed with early AMD. Conclusion: For the first time, this study showed metabolite changes in the plasma of patients with AMD as compared to controls, using NMR. Geographical origins were seen to affect AMD patients´ metabolic profile and some metabolites were found to be valuable in potentially differentiating controls from early stage AMD patients. Metabolomics has the potential of identifying biomarkers for AMD, and further work in this area is warranted.

Published
2017
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196. Automated Brightness and Contrast Adjustment of Color Fundus Photographs for the Grading of Age-Related Macular Degeneration

Author

Tsikata, Edem, Laíns, Inês, Gil, João, Marques, Marco, Brown, Kelsey, Mesquita, Tânia, Melo, Pedro, da Luz Cachulo, Maria, Kim, Ivana K., Vavvas, Demetrios, Murta, Joaquim N., Miller, John B., Silva, Rufino, Miller, Joan W., Chen, Teresa C., and Husain, Deeba

Subjects
image analysis, age-related macular degeneration, automated optimization
Abstract

Purpose The purpose of this study was to develop an algorithm to automatically standardize the brightness, contrast, and color balance of digital color fundus photographs used to grade AMD and to validate this algorithm by determining the effects of the standardization on image quality and disease grading. Methods: Seven-field color photographs of patients (>50 years) with any stage of AMD and a control group were acquired at two study sites, with either the Topcon TRC-50DX or Zeiss FF-450 Plus cameras. Field 2 photographs were analyzed. Pixel brightness values in the red, green, and blue (RGB) color channels were adjusted in custom-built software to make the mean brightness and contrast of the images equal to optimal values determined by the Age-Related Eye Disease Study (AREDS) 2 group. Results: Color photographs of 370 eyes were analyzed. We found a wide range of brightness and contrast values in the images at baseline, even for those taken with the same camera. After processing, image brightness variability (brightest image–dimmest image in a color channel) was reduced 69-fold, 62-fold, and 96-fold for the RGB channels. Contrast variability was reduced 6-fold, 8-fold, and 13-fold, respectively, after adjustment. Of the 23% images considered nongradable before adjustment, only 5.7% remained nongradable. Conclusions: This automated software enables rapid and accurate standardization of color photographs for AMD grading. Translational Relevance This work offers the potential to be the future of assessing and grading AMD from photos for clinical research and teleimaging.

Published
2017
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197. Influence of ROBO1 and RORA on Risk of Age-Related Macular Degeneration Reveals Genetically Distinct Phenotypes in Disease Pathophysiology.

Author

Gyungah Jun, Nicolaou, Michael, Morrison, Margaux A., Buros, Jacqueline, Morgan, Denise J., Radeke, Monte J., Yonekawa, Yoshihiro, Tsironi, Evangelia E., Kotoula, Maria G., Zacharaki, Fani, Mollema, Nissa, Yang Yuan, Miller, Joan W., Haider, Neena B., Hageman, Gregory S., Kim, Ivana K., Schaumberg, Debra A., Farrer, Lindsay A., and DeAngelis, Margaret M.

Subjects
PHENOTYPES, PATHOLOGICAL physiology, RETINAL degeneration, DISEASES in older people, NUCLEOPROTEINS, GENOTYPE-environment interaction
Abstract

ROBO1 is a strong candidate gene for age-related macular degeneration (AMD) based upon its location under a linkage peak on chromosome 3p12, its expression pattern, and its purported function in a pathway that includes RORA, a gene previously associated with risk for neovascular AMD. Previously, we observed that expression of ROBO1 and RORA is down-regulated among wet AMD cases, as compared to their unaffected siblings. Thus, we hypothesized that contribution of association signals in ROBO1, and interaction between these two genes may be important for both wet and dry AMD. We evaluated association of 19 single nucleotide polymorphisms (SNPs) in ROBO1 with wet and dry stages of AMD in a sibling cohort and a Greek case-control cohort containing 491 wet AMD cases, 174 dry AMD cases and 411 controls. Association signals and interaction results were replicated in an independent prospective cohort (1070 controls, 164 wet AMD cases, 293 dry AMD cases). The most significantly associated ROBO1 SNPs were rs1387665 under an additive model (meta P = 0.028) for wet AMD and rs9309833 under a recessive model (meta P = 6×10-4) for dry AMD. Further analyses revealed interaction between ROBO1 rs9309833 and RORA rs8034864 for both wet and dry AMD (interaction P,0.05). These studies were further supported by whole transcriptome expression profile studies from 66 human donor eyes and chromatin immunoprecipitation assays from mouse retinas. These findings suggest that distinct ROBO1 variants may influence the risk of wet and dry AMD, and the effects of ROBO1 on AMD risk may be modulated by RORA variants. [ABSTRACT FROM AUTHOR]

Published
2011
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198. Proton Beam Irradiation Using a Light-Field Technique for the Treatment of Choroidal Hemangiomas.

Author

Chan, R. V. Paul, Yonekawa, Yoshihiro, Lane, Anne Marie, Skondra, Dimitra, Munzenrider, John E., Collier, J. Michael, Gragoudas, Evangelos S., and Kim, Ivana K.

Subjects
PROTON beams, IRRADIATION, HEMANGIOMAS, PROTONS, RETINAL diseases
Abstract

Background/Aims: To describe the clinical outcomes of patients with circumscribed and diffuse choroidal hemangiomas treated by proton beam irradiation using a nonsurgical light-field technique. Methods: A retrospective chart review was performed on a series of 19 patients (19 eyes) with choroidal hemangiomas treated with proton beam therapy between July 1988 and August 2005. Choroidal hemangiomas were treated with proton beam irradiation using a light-field technique and doses ranging from 15 to 30 cobalt Gray equivalents (CGE; CGE = proton Gy × relative biological effectiveness 1.1) in 4 fractions. Patients with at least 6 months' follow-up were included in the study. Tumor regression, visual acuity, absorption of subretinal fluid, and treatment-associated complications were evaluated by clinical examination and ultrasonography. Results: Visual acuity improved or remained stable in 14 of 18 eyes (78%). Subretinal fluid was initially present in 16 of 19 eyes (84%), and completely resolved in all 16 eyes. Tumor height, as measured by B-scan ultrasonography, decreased in 18 of 19 eyes and remained stable in 1 of 19, as of the last examination. Complications of radiation developed in 9 of 19 eyes (47%) with the total applied dose ranging from 15 to 30 CGE for these 9 eyes. Conclusions: Proton beam irradiation using a light-field technique without surgical tumor localization is an effective treatment option in managing both circumscribed choroidal hemangiomas and diffuse hemangiomas associated with Sturge-Weber syndrome. A total proton dose as low as 15 CGE applied in 4 fractions appears to be sufficient to reduce tumor size, promote absorption of subretinal fluid, and improve or stabilize vision in most patients. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2010
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199. The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.

Author

Hong Zhang, Morrison, Margaux A., DeWan, Andy, Adams, Scott, Andreoli, Michael, Huynh, Nancy, Regan, Maureen, Brown, Alison, Miller, Joan W., Kim, Ivana K., Hoh, Josephine, and DeAngelis, Margaret M.

Subjects
GENOMES, DISEASE risk factors, RETINAL degeneration, DISEASES in older people, GENES, MEDICAL genetics
Abstract

Background: To examine if the significantly associated SNPs derived from the genome wide allelic association study on the AREDS cohort at the NEI (dbGAP) specifically confer risk for neovascular age-related macular degeneration (AMD). We ascertained 134 unrelated patients with AMD who had one sibling with an AREDS classification 1 or less and was past the age at which the affected sibling was diagnosed (268 subjects). Genotyping was performed by both direct sequencing and Sequenom iPLEX system technology. Single SNP analyses were conducted with McNemar's Test (both 2 x 2 and 3 x 3 tests) and likelihood ratio tests (LRT). Conditional logistic regression was used to determine significant gene-gene interactions. LRT was used to determine the best fit for each genotypic model tested (additive, dominant or recessive). Results: Before release of individual data, p-value information was obtained directly from the AREDS dbGAP website. Of the 35 variants with P < 10-6 examined, 23 significantly modified risk of neovascular AMD. Many variants located in tandem on 1q32-q22 including those in CFH, CFHR4, CFHR2, CFHR5, F13B, ASPM and ZBTB were significantly associated with AMD risk. Of these variants, single SNP analysis revealed that CFH rs572515 was the most significantly associated with AMD risk (P < 10-6). Haplotype analysis supported our findings of single SNP association, demonstrating that the most significant haplotype, GATAGTTCTC, spanning CFH, CFHR4, and CFHR2 was associated with the greatest risk of developing neovascular AMD (P < 10-6). Other than variants on 1q32-q22, only two SNPs, rs9288410 (MAP2) on 2q34-q35 and rs2014307 (PLEKHA1/HTRA1) on 10q26 were significantly associated with AMD status (P = .03 and P < 10-6 respectively). After controlling for smoking history, gender and age, the most significant gene-gene interaction appears to be between rs10801575 (CFH) and rs2014307 (PLEKHA1/HTRA1) (P < 10-11). The best genotypic fit for rs10801575 and rs2014307 was an additive model based on LRT. After applying a Bonferonni correction, no other significant interactions were identified between any other SNPs. Conclusion: This is the first replication study on the NEI dbGAP SNPs, demonstrating that alleles on 1q, 2q and 10q may predispose an individual to AMD. [ABSTRACT FROM AUTHOR]

Published
2008
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200. Detection of Copy-Number Variation in Circulating Cell-Free DNA in Patients With Uveal Melanoma.

Author

Sato, Takuto, Montazeri, Kamaneh, Gragoudas, Evangelos S., Lane, Anne Marie, Aronow, Mary Beth, Cohen, Justine V., Boland, Genevieve M., Banks, Eric, Kachulis, Christopher, Fleharty, Mark, Cibulskis, Carrie, Lawless, Aleigha, Adalsteinsson, Viktor A., Sullivan, Ryan J., and Kim, Ivana K.

Subjects
*CIRCULATING tumor DNA, *WHOLE genome sequencing, *CELL-free DNA, *LIKELIHOOD ratio tests, *DISEASE progression, *UVEAL melanoma
Abstract

PURPOSE: Somatic chromosomal alterations, particularly monosomy 3 and 8q gains, have been associated with metastatic risk in uveal melanoma (UM). Whole genome-scale evaluation of detectable alterations in cell-free DNA (cfDNA) in UM could provide valuable prognostic information. Our pilot study evaluates the correlation between genomic information using ultra-low-pass whole-genome sequencing (ULP-WGS) of cfDNA in UM and associated clinical outcomes. MATERIALS AND METHODS: ULP-WGS of cfDNA was performed on 29 plasma samples from 16 patients, 14 metastatic UM (mUM) and two non-metastatic, including pre- and post-treatment mUM samples from 10 patients treated with immunotherapy and one with liver-directed therapy. We estimated tumor fraction (TFx) and detected copy-number alterations (CNAs) using ichorCNA. Presence of 8q amplification was further analyzed using the likelihood ratio test (LRT). RESULTS: Eleven patients with mUM (17 samples) of 14 had detectable circulating tumor DNA (ctDNA). 8q gain was detected in all 17, whereas monosomy 3 was detectable in 10 of 17 samples. TFx generally correlated with disease status, showing an increase at the time of disease progression (PD). 8q gain detection sensitivity appeared greater with the LRT than with ichorCNA at lower TFxs. The only patient with mUM with partial response on treatment had a high pretreatment TFx and undetectable on-treatment ctDNA, correlating with her profound response and durable survival. CONCLUSION: ctDNA can be detected in mUM using ULP-WGS, and the TFx correlates with DS. 8q gain was consistently detectable in mUM, in line with previous studies indicating 8q gains early in primary UM and higher amplification with PD. Our work suggests that detection of CNAs by ULP-WGS, particularly focusing on 8q gain, could be a valuable blood biomarker to monitor PD in UM. [ABSTRACT FROM AUTHOR]

Published
2024
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