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1. Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

Author

Duncan, Jacque L, Biswas, Pooja, Kozak, Igor, Navani, Mili, Syed, Reema, Soudry, Shiri, Menghini, Moreno, Caruso, Rafael C, Jeffrey, Brett G, Heckenlively, John R, Reddy, G Bhanuprakash, Lee, Pauline, Roorda, Austin, and Ayyagari, Radha

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Neurodegenerative, Clinical Research, Genetics, Human Genome, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Eye, Adult, Aged, Blindness, Codon, Nonsense, DNA Mutational Analysis, Electroretinography, Exome, Eye Proteins, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Retinal Degeneration, Tomography, Optical Coherence, Visual Acuity, Visual Field Tests, Visual Fields, Exome sequencing, FAM161A, retinal degeneration, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

BackgroundCharacterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects.Materials and methodsSix members from a non-consanguineous Indian family (three affected siblings, their asymptomatic parents and an asymptomatic child) were characterized clinically, using visual acuity, perimetry, full-field electroretinography (ERG), optical coherence tomography and cone structure as outcome measures. Cone photoreceptors were imaged in the proband using adaptive optics scanning laser ophthalmoscopy. The exome was captured using Nimblegen SeqCap EZ V3.0 probes and sequenced using lllumina HiSeq. Reads were mapped to reference hg19. Confirmation of variants and segregation analysis was performed using dideoxy sequencing.ResultsAnalysis of exome variants using exomeSuite identified five homozygous variants in four genes known to be associated with RD. Further analysis revealed a homozygous nonsense mutation, c.1105 C > T, p.Arg335Ter, in the FAM161A gene segregating with RD. Three additional variants were found to occur at high frequency. Affected members showed a range of disease severity beginning at different ages, but all developed severe visual field and outer retinal loss.ConclusionsExome analysis revealed a nonsense homozygous mutation in FAM161A segregating with RD with severe vision loss and a range of disease onset and progression. Loss of outer retinal structures demonstrated with high-resolution retinal imaging suggests FAM161A is important for normal photoreceptor structure and survival. Exome sequencing may identify causative genetic variants in autosomal recessive RD families when other genetic test strategies fail to identify a mutation.

Published
2016

3. Vision

Author

Hejtmancik, J. Fielding, FitzGibbon, Edmond J., Caruso, Rafael C., and Conn, P. Michael, editor

Published
2008
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4. Vision

Author

Hejtmancik, J. Fielding, Caruso, Rafael C., and Conn, P. Michael, editor

Published
2003
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8. Mutations of MYO6 are associated with recessive deafness, DFNB37. (Report)

Author

Ahmed, Zubair M., Morell, Robert J., Riazuddin, Saima, Gropman, Andrea, Shaukat, Shahzad, Ahmad, Mussaber M., Mohiddin, Saidi A., Fananapazir, Lameh, Caruso, Rafael C., Husnain, Tayyab, Khan, Shaheen N., Riazuddin, Sheikh, Griffith, Andrew J., Friedman, Thomas B., and Wilcox, Edward R.

Subjects
Gene mutations -- Physiological aspects, Deafness -- Genetic aspects, Human genetics -- Research, Biological sciences
Published
2003

21. Molecular Testing for Hereditary Retinal Disease as Part of Clinical Care

Author

Downs, Katy, Zacks, David N., Caruso, Rafael, Karoukis, Athanasios J., Branham, Kari, Yashar, Beverly M., Haimann, Mark H., Trzupek, Karmen, Meltzer, Meira, Blain, Delphine, Richards, Julia E., Weleber, Richard G., Heckenlively, John R., Sieving, Paul A., and Ayyagari, Radha

Published
2007

28. Presumed Choroidal and Orbital Mastocytosis

Author

Fine, Howard F., Akin, Cem, Hematti, Peiman, Butman, John, Caruso, Rafael C., Csaky, Karl G., Metcalfe, Dean D., Nussenblatt, Robert B., and Robinson, Michael R.

Published
2001

31. Pilot Trial of the Safety, Tolerability, and Retinoid Levels of N-(4-hydroxyphenyl) Retinamide in Combination With Tamoxifen in Patients at High Risk for Developing Invasive Breast Cancer

Author

Conley, Barbara, O’Shaughnessy, Joyce, Prindiville, Sheila, Lawrence, Julia, Chow, Catherine, Jones, Elizabeth, Merino, Maria J., Kaiser-Kupfer, Muriel I., Caruso, Rafael C., Podgor, Marvin, Goldspiel, Barry, Venzon, David, Danforth, David, Wu, Suhlan, Noone, Marianne, Goldstein, Jennifer, Cowan, Kenneth H., and Zujewski, JoAnne

Published
2000

36. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy

Author

Kaiser-Kupfer, Muriel I., Chan, Chi-Chao, Markello, Thomas C., Crawford, Mary Alice, Caruso, Rafael C., Csaky, Karl G., Guo, Juanru, and Gahl, William A.

Subjects
Crystalline lens -- Diseases, Retinal diseases -- Case studies, Retinal degeneration -- Development and progression, Familial diseases -- Case studies, Health
Published
1994

38. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

Author

Stuart Caroline, Caruso Rafael C, Kleta Robert, Brooks Brian P, Ludlow Jonathan, and Stratakis Constantine A

Subjects
Ophthalmology, RE1-994
Abstract

Abstract Background Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and – occasionally – autonomic instability. Mutations have been found in the AAAS gene on 12q13. Case presentation We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X. Conclusions In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.

Published
2004
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39. Retinal toxicity in human immunodeficiency virus-infected children treated with 2',3'-dideoxyinosine

Author

Whitcup, Scott M., Butler, Karina M., Caruso, Rafael, de Smet, Marc D., Rubin, Benjamin, Husson, Robert N., Lopez, Juan S., Belfort, Rubens, Jr., Pizzo, Philip A., and Nusenblatt, Robert B.

Subjects
Dideoxyadenosine -- Adverse and side effects, Toxicity testing -- Research, Retinal diseases -- Drug therapy, Health
Abstract

To assess the safety and antiretroviral activity of 2',3'-dideoxyinosine, we enrolled 43 children with symptomatic (Centers for Disease Control class P-2) human immunodeficiency virus infection in a Phase I-II study and monitored them prospectively for the development of ocular complications secondary to HIV infection or drug toxicity. Follow-up ranged from 12 to 103 weeks with a median follow-up of 71 weeks. Three of 43 children (7.0%) developed peripheral atrophy of the retinal pigment epithelium during treatment with 2',3'-dideoxyinosine. The two children with the most severe retinal atrophy were enrolled in the study at the highest dosage studied (540 mg/[m.sup.2]/day). In contrast to findings in children, no retinal atrophy in HIV-infected adults treated with 2',3'-dideoxyinosine has been evident to date.

Published
1992

43. Colaboradores

Author

Acera, Erika C., Afshari, Natalie A., Agarwal, Anita, Agranat, Joshua S., Ajlan, Radwan S., Akhlaq, Anam, Albini, Thomas A., Al-Ghoul, Ahmed, Ali, Ferhina S., Alió, Jorge L., Allemann, Norma, Allen, David, Allman, Keith G., Alvi, Nishat P., Ang, Leonard P.K., Apple, David J., Aquino, Maria Cecilia D., Arnold, Anthony C., Arshinoff, Steve A., Asbell, Penny A., Assil, Kerry K., Atebara, Neal H., Augsburger, James J., Aylward, G. William, Azar, Dimitri T., Bakri, Sophie J., Balcer, Laura J., Balducci, Nicole, Barboni, Piero, Barnett, Cullen J., Basu, Soumyava, Batta, Priti, Baumal, Caroline R., Bearelly, Srilaxmi, Berry, Jesse L., Bessette, Angela P., Bhatt, Nirali, Birdsong, Orry C., Biswas, Jyotirmay, Bodaghi, Bahram, Bose, Swaraj, Bouchard, Charles S., Boulton, Michael E., Brandt, James D., Brodie, Scott E., Brodsky, Michael C., Brooks, Cassandra C., Brumm, Matthew V., Budenz, Donald L., Bussel, Igor I., Cantor, Louis B., Capó, Hilda, Capone, Antonio, Jr., Carruthers, Alastair, Carruthers, Jean, Carter, Keith D., Caruso, Rafael C., Chahal, Harinderpal S., Chamon, Wallace, Chan, Chi-Chao, Chang, Melinda Y., Chang, Stanley, Chang, Victoria S., Charteris, David G., Chee, Soon-Phaik, Chen, John J., Chen, Xuejing, Chew, Paul T.K., Chiu, Bing, Chow, Clement C., Civan, Mortimer M., Clark, Abbot (Abe), Clarke, Jonathan C.K., Codère, François, Conner, Ian P., Coombs, Peter, Corrêa, Zélia M., Couch, Steven M., Coupland, Stuart G., Cowan, Claude L., Jr., Craven, E. Randy, Cukras, Catherine A., Dagi, Linda R., Dahan, Elie, Damgaard, Iben Bach, Damji, Karim F., Das, Dipankar, DeBusk, Adam, de la Cruz, Jose, Demer, Joseph L., Desai, Shilpa J., Dhaliwal, Deepinder K., Diamond, Gary R., Diniz, Daniel, Do, Diana V., Dolman, Peter J., Donahue, Sean P., Dortzbach, Richard K., Drenser, Kimberly A., Duker, Jacob S., Duker, Jay S., Durairaj, Vikram D., Dutton, Jonathan J., Edgington, Bryan, Eggers, Howard M., Eliott, Dean, Ellis, George S., Jr., Engelbert, Michael, Englander, Miriam, Esmaeli, Bita, Evans, Joshua W., Evans, Monica, Fahd, Daoud S., Faia, Lisa J., Fallano, Katherine A., Farjo, Ayad A., Feinstein, Eric, Fernandez, Karen B., Fisher, Yale L., Fishman, Gerald A., Fortun, Jorge A., Fragoso, Veronica Vargas, Freeman, Nicola, Friedman, David S., Friedman, Deborah I., Friedman, Neil J., Fynn-Thompson, Nicoletta, Gadaria-Rathod, Neha, Garcia-Zalisnak, Debora E., Gayre, Gregg S., Gedde, Steven J., Gery, Igal, Ghanem, Ramon C., Ghanem, Vinícius C., Ghosh, Saurabh, Gibbons, Allister, Gigantelli, James W., Giri, Pushpanjali, Goldberg, Ivan, Goldberg, Jeffrey L., Goldstein, Debra A., Goldstein, Michael H., Gonzales, John A., Granet, David B., Gray, Matthew J., Green, Kyle M., Greven, Craig M., Greven, Margaret A., Gross, Josh C., Gross, Ronald L., Grover, Sandeep, Guercio, Jason R., Gueudry, Julie, Gündüz, Ahmet Kaan, Hallak, Joelle A., Haller, Julia A., Hamrah, Pedram, Hardten, David R., Harris, Alon, Heier, Jeffrey S., Herndon, Leon W., Jr., Ho, Allen C., Hood, Christopher T., Hou, Joshua H., Houghton, Odette M., Houser, Kourtney, Howes, Frank W., Hsu, Jason, Hurwitz, Jeffrey J., Irochima, Francisco, Isteitiya, Jihad, Izak, Andrea M., Jacobs, Deborah S., Jain, Sandeep, Jampel, Henry D., Jampol, Lee M., Jap, Aliza, Johnson, Chris A., Johnson, Mark W., Johnson, T. Mark, Kaehr, Mark M., Kahook, Malik Y., Kaiser, Peter K., Kalarn, Sachin P., Kalevar, Ananda, Kane, Steven, Kanner, Elliott M., Kaplowitz, Kevin, Kapusta, Michael A., Karanjia, Rustum, Kardon, Randy H., Karp, Carol L., Kashani, Amir H., Kass, Michael A., Kataguiri, Paula, Katz, L. Jay, Kaufman, Paul L., Keenan, Jeremy D., Kenyon, Kenneth R., Khaw, Sir Peng Tee, Kim, Gene, Kim, Ivana K., Kimura, Alan E., Kinori, Michael, Kirwan, Caitriona, Kiss, Szilárd, Kitchens, John W., Klein, Kendra, Koch, Douglas D., Koh, Victor T.C., Kohnen, Thomas, Koustenis, Andrew, Lane, Stephen S., Lavin, Patrick J.M., Lavinsky, Fabio, Lawton, Andrew W., Lee, Bryan S., Lee, Daniel, Lee, Gregory D., Lee, Olivia L., Lee, Paul P., Lee, Richard M.H., Lim, Dawn K.A., Lim, Jennifer I., Lim, Ridia, Lin, Tony K.Y., Lind, John T., Liu, Yao, Liyanage, Sidath E., Lockwood, Alastair J., Loewen, Nils A., Longmuir, Reid A., Lopez, Pedro F., Lundström, Mats, Maamari, Robi N., Madu, Assumpta, Maloney, Maya H., Mandava, Naresh, Marmor, Michael F., Mathura, Jeevan R., Jr., Mattox, Cynthia, McClatchey, Scott K., McLeod, Stephen D., McMillan, Brian D., McNab, Alan A., Mehta, Jodhbir S., Mejico, Luis J., Mercado, Carolina L., Mian, Shahzad I., Mieler, William F., Miller, David, Miller, Kyle E., Mimura, Tatsuya, Mirza, Rukhsana G., Mititelu, Mihai, Moorthy, Ramana S., Moshfeghi, Andrew A., Moshirfar, Majid, Moss, Heather E., Moster, Mark L., Muir, Kelly W., Neff, Ann G., Nerad, Jeffrey A., Nikpoor, Neda, Noecker, Robert J., Nosé, Ricardo, Okada, Annabelle A., O’Keefe, Michael, Olson, Jeffrey L., Olver, Jane M., Opalinski, Yvonne A.V., Örge, Faruk H., Packer, Mark, Pandey, Suresh K., Parikh, Vishal S., Pasquale, Louis R., Patel, Sarju S., Patel, Vivek R., Pavesio, Carlos E., Perez, Victor L., Perez-Straziota, Claudia E., Phillips, Lauren T., Piltz-Seymour, Jody R., Piva, Alfio P., Podbielski, Dominik W., Pondelis, Nicolas J., Price, Francis W., Jr., Price, Marianne O., Pritchard, Cindy, Quiros, Peter A., Rachitskaya, Aleksandra V., Ramulu, Pradeep Y., Randleman, J. Bradley, Rao, Narsing A., Rao, Naveen K., Rao, P. Kumar, Rao, Rajesh C., Rathinam, Sivakumar, Read, Russell W., Regatieri, Caio Vinicius Saito, Regillo, Carl D., Reichel, Elias, Rhee, Douglas J., Ringeisen, Alexander L., Ritch, Robert, Robbins, Shira L., Rodger, Damien C., Roh, Miin, Roh, Shiyoung, Rosado-Adames, Noel, Rosen, Emanuel S., Rubenstein, Jonathan B., Rubin, Richard M., Rubin, Steven E., Rubsamen, Patrick E., Rupp, Jason D., Saadati, Hossein G., Sadun, Alfredo A., Saeedi, Osamah J., Salchow, Daniel J., Salim, Sarwat, Samuelson, Thomas W., Sandhu, Simrenjeet, Santhiago, Marcony R., Savini, Giacomo, Sayed-Ahmed, Ibrahim O., Scheffler, Amy C., Schor, Paulo, Schubert, Hermann D., Schuman, Joel S., Schwartz, Gary S., Sebag, J., Sebrow, Dov B., Sen, H. Nida, Shah, Gaurav K., Shields, Carol L., Shildkrot, Yevgeniy (Eugene), Shingleton, Bradford J., Shtein, Roni M., Shultz, Ryan W., Sierra, Patricia B., Siesky, Brent, Sieving, Paul A., Skondra, Dimitra, Small, Kent W., Smiddy, William E., Somogyi, Marie, Soong, H. Kaz, Soukiasian, Sarkis H., Spaide, Richard F., Spektor, Tatyana, Spoor, Thomas C., Srivastava, Sunil K., Stagg, Brian C., Steel, David H.W., Stein, Joshua D., Strominger, Mitchell B., Sugar, Alan, Sugar, Joel, Sychev, Yevgeniy V., Tai, Tak Yee Tania, Tan, James C., Tanenbaum, Myron, Taneri, Suphi, Tasman, William, Telander, David G., Thall, Edmond H., Thanos, Aristomenis, Theophanous, Christos N., Thomas, Benjamin J., Thulasi, Praneetha, Tibbetts, Michael D., Tingey, David P., Tobaigy, Faisal M., Todorich, Bozho, Tompson, Stuart W., Tsai, James C., Tsai, Julie H., Tucker, Nancy, Tuli, Sonal S., Vargason, Caroline W., Vasaiwala, Roshni A., Vasconcelos-Santos, Daniel Vitor, Vaughn, Gregory J., Venkat, Arthi, Villarreal, Guadalupe, Jr., Vinod, Kateki, Vislisel, Jesse M., Vrcek, Ivan, Wadia, Hormuz P., Walker, Brian D., Walton, David S., Wang, Li, Wang, Michelle Y., Wang, Robert C., Wax, Martin, Weinstein, Joel M., Weiter, John J., Werner, Liliana, Wevill, Mark, Wiggs, Janey L., Williams, Andrew M., Williams, George A., Witmer, Matthew T., Wollstein, Gadi, Woodward, Maria A., Wride, Nicholas K., Wu, Albert, Xu, David, Young, Joshua A., Yung, Edward S., Yu-Wai-Man, Cynthia, Zein, Wadih M., and Zhu, Ivy

Published
2020
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48. List of Contributors

Author

Acera, Erika C., Afshari, Natalie A., Agarwal, Anita, Agranat, Joshua S., Ajlan, Radwan S., Akhlaq, Anam, Albini, Thomas A., Al-Ghoul, Ahmed, Ali, Ferhina S., Alió, Jorge L., Allemann, Norma, Allen, David, Allman, Keith G., Alvi, Nishat P., Ang, Leonard P.K., Apple, David J., Aquino, Maria Cecilia D., Arnold, Anthony C., Arshinoff, Steve A., Asbell, Penny A., Assil, Kerry K., Atebara, Neal H., Augsburger, James J., Aylward, G. William, Azar, Dimitri T., Bakri, Sophie J., Balcer, Laura J., Balducci, Nicole, Barboni, Piero, Barnett, Cullen J., Basu, Soumyava, Batta, Priti, Baumal, Caroline R., Bearelly, Srilaxmi, Berry, Jesse L., Bessette, Angela P., Bhatt, Nirali, Birdsong, Orry C., Biswas, Jyotirmay, Bodaghi, Bahram, Bose, Swaraj, Bouchard, Charles S., Boulton, Michael E., Brandt, James D., Brodie, Scott E., Brodsky, Michael C., Brooks, Cassandra C., Brumm, Matthew V., Budenz, Donald L., Bussel, Igor I., Cantor, Louis B., Capó, Hilda, Capone, Antonio, Jr, Carruthers, Alastair, Carruthers, Jean, Carter, Keith D., Caruso, Rafael C., Chahal, Harinderpal S., Chamon, Wallace, Chan, Chi-Chao, Chang, Melinda Y., Chang, Stanley, Chang, Victoria S., Charteris, David G., Chee, Soon-Phaik, Chen, John J., Chen, Xuejing, Chew, Paul T.K., Chiu, Bing, Chow, Clement C., Civan, Mortimer M., Clark, Abbot (Abe), Clarke, Jonathan C.K., Codère, François, Conner, Ian P., Coombs, Peter, Corrêa, Zélia M., Couch, Steven M., Coupland, Stuart G., Cowan, Claude L., Jr, Craven, E. Randy, Cukras, Catherine A., Dagi, Linda R., Dahan, Elie, Damgaard, Iben Bach, Damji, Karim F., Das, Dipankar, DeBusk, Adam, de la Cruz, Jose, Demer, Joseph L., Desai, Shilpa J., Dhaliwal, Deepinder K., Diamond, Gary R., Diniz, Daniel, Do, Diana V., Dolman, Peter J., Donahue, Sean P., Dortzbach, Richard K., Drenser, Kimberly A., Duker, Jacob S., Duker, Jay S., Durairaj, Vikram D., Dutton, Jonathan J., Edgington, Bryan, Eggers, Howard M., Eliott, Dean, Ellis, George S., Jr, Engelbert, Michael, Englander, Miriam, Esmaeli, Bita, Evans, Joshua W., Evans, Monica, Fahd, Daoud S., Faia, Lisa J., Fallano, Katherine A., Farjo, Ayad A., Feinstein, Eric, Fernandez, Karen B., Fisher, Yale L., Fishman, Gerald A., Fortun, Jorge A., Fragoso, Veronica Vargas, Freeman, Nicola, Friedman, David S., Friedman, Deborah I., Friedman, Neil J., Fynn-Thompson, Nicoletta, Gadaria-Rathod, Neha, Garcia-Zalisnak, Debora E., Gayre, Gregg S., Gedde, Steven J., Gery, Igal, Ghanem, Ramon C., Ghanem, Vinícius C., Ghosh, Saurabh, Gibbons, Allister, Gigantelli, James W., Giri, Pushpanjali, Goldberg, Ivan, Goldberg, Jeffrey L., Goldstein, Debra A., Goldstein, Michael H., Gonzales, John A., Granet, David B., Gray, Matthew J., Green, Kyle M., Greven, Craig M., Greven, Margaret A., Gross, Josh C., Gross, Ronald L., Grover, Sandeep, Guercio, Jason R., Gueudry, Julie, Gündüz, Ahmet Kaan, Hallak, Joelle A., Haller, Julia A., Hamrah, Pedram, Hardten, David R., Harris, Alon, Heier, Jeffrey S., Herndon, Leon W., Jr, Ho, Allen C., Hood, Christopher T., Hou, Joshua H., Houghton, Odette M., Houser, Kourtney, Howes, Frank W., Hsu, Jason, Hurwitz, Jeffrey J., Irochima, Francisco, Isteitiya, Jihad, Izak, Andrea M., Jacobs, Deborah S., Jain, Sandeep, Jampel, Henry D., Jampol, Lee M., Jap, Aliza, Johnson, Chris A., Johnson, Mark W., Johnson, T. Mark, Kaehr, Mark M., Kahook, Malik Y., Kaiser, Peter K., Kalarn, Sachin P., Kalevar, Ananda, Kane, Steven, Kanner, Elliott M., Kaplowitz, Kevin, Kapusta, Michael A., Karanjia, Rustum, Kardon, Randy H., Karp, Carol L., Kashani, Amir H., Kass, Michael A., Kataguiri, Paula, Katz, L. Jay, Kaufman, Paul L., Keenan, Jeremy D., Kenyon, Kenneth R., Khaw, Peng Tee, Kim, Gene, Kim, Ivana K., Kimura, Alan E., Kinori, Michael, Kirwan, Caitriona, Kiss, Szilárd, Kitchens, John W., Klein, Kendra, Koch, Douglas D., Koh, Victor T.C., Kohnen, Thomas, Koustenis, Andrew, Lane, Stephen S., Lavin, Patrick J.M., Lavinsky, Fabio, Lawton, Andrew W., Lee, Bryan S., Lee, Daniel, Lee, Gregory D., Lee, Olivia L., Lee, Paul P., Lee, Richard M.H., Lim, Dawn K.A., Lim, Jennifer I., Lim, Ridia, Lin, Tony K.Y., Lind, John T., Liu, Yao, Liyanage, Sidath E., Lockwood, Alastair J., Loewen, Nils A., Longmuir, Reid A., Lopez, Pedro F., Lundström, Mats, Maamari, Robi N., Madu, Assumpta, Maloney, Maya H., Mandava, Naresh, Marmor, Michael F., Mathura, Jeevan R., Jr, Mattox, Cynthia, McClatchey, Scott K., McLeod, Stephen D., McMillan, Brian D., McNab, Alan A., Mehta, Jodhbir S., Mejico, Luis J., Mercado, Carolina L., Mian, Shahzad I., Mieler, William F., Miller, David, Miller, Kyle E., Mimura, Tatsuya, Mirza, Rukhsana G., Mititelu, Mihai, Moorthy, Ramana S., Moshfeghi, Andrew A., Moshirfar, Majid, Moss, Heather E., Moster, Mark L., Muir, Kelly W., Neff, Ann G., Nerad, Jeffrey A., Nikpoor, Neda, Noecker, Robert J., Nosé, Ricardo, Okada, Annabelle A., O'Keefe, Michael, Olson, Jeffrey L., Olver, Jane M., Opalinski, Yvonne A.V., Örge, Faruk H., Packer, Mark, Pandey, Suresh K., Parikh, Vishal S., Pasquale, Louis R., Patel, Sarju S., Patel, Vivek R., Pavesio, Carlos E., Perez, Victor L., Perez-Straziota, Claudia E., Phillips, Lauren T., Piltz-Seymour, Jody R., Piva, Alfio P., Podbielski, Dominik W., Pondelis, Nicolas J., Price, Francis W., Jr, Price, Marianne O., Pritchard, Cindy, Quiros, Peter A., Rachitskaya, Aleksandra V., Ramulu, Pradeep Y., Randleman, J. Bradley, Rao, Narsing A., Rao, Naveen K., Rao, P. Kumar, Rao, Rajesh C., Rathinam, Sivakumar, Read, Russell W., Saito Regatieri, Caio Vinicius, Regillo, Carl D., Reichel, Elias, Rhee, Douglas J., Ringeisen, Alexander L., Ritch, Robert, Robbins, Shira L., Rodger, Damien C., Roh, Miin, Roh, Shiyoung, Rosado-Adames, Noel, Rosen, Emanuel S., Rubenstein, Jonathan B., Rubin, Richard M., Rubin, Steven E., Rubsamen, Patrick E., Rupp, Jason D., Saadati, Hossein G., Sadun, Alfredo A., Saeedi, Osamah J., Salchow, Daniel J., Salim, Sarwat, Samuelson, Thomas W., Sandhu, Simrenjeet, Santhiago, Marcony R., Savini, Giacomo, Sayed-Ahmed, Ibrahim O., Scheffler, Amy C., Schor, Paulo, Schubert, Hermann D., Schuman, Joel S., Schwartz, Gary S., Sebag, J., Sebrow, Dov B., Sen, H. Nida, Shah, Gaurav K., Shields, Carol L., Shildkrot, Yevgeniy (Eugene), Shingleton, Bradford J., Shtein, Roni M., Shultz, Ryan W., Sierra, Patricia B., Siesky, Brent, Sieving, Paul A., Skondra, Dimitra, Small, Kent W., Smiddy, William E., Somogyi, Marie, Soong, H. Kaz, Soukiasian, Sarkis H., Spaide, Richard F., Spektor, Tatyana, Spoor, Thomas C., Srivastava, Sunil K., Stagg, Brian C., Steel, David H.W., Stein, Joshua D., Strominger, Mitchell B., Sugar, Alan, Sugar, Joel, Sychev, Yevgeniy V., Tania Tai, Tak Yee, Tan, James C., Tanenbaum, Myron, Taneri, Suphi, Tasman, William, Telander, David G., Thall, Edmond H., Thanos, Aristomenis, Theophanous, Christos N., Thomas, Benjamin J., Thulasi, Praneetha, Tibbetts, Michael D., Tingey, David P., Tobaigy, Faisal M., Todorich, Bozho, Tompson, Stuart W., Tsai, James C., Tsai, Julie H., Tucker, Nancy, Tuli, Sonal S., Vargason, Caroline W., Vasaiwala, Roshni A., Vasconcelos-Santos, Daniel Vitor, Vaughn, Gregory J., Venkat, Arthi, Villarreal, Guadalupe, Jr, Vinod, Kateki, Vislisel, Jesse M., Vrcek, Ivan, Wadia, Hormuz P., Walker, Brian D., Walton, David S., Wang, Li, Wang, Michelle Y., Wang, Robert C., Wax, Martin, Weinstein, Joel M., Weiter, John J., Werner, Liliana, Wevill, Mark, Wiggs, Janey L., Williams, Andrew M., Williams, George A., Witmer, Matthew T., Wollstein, Gadi, Woodward, Maria A., Wride, Nicholas K., Wu, Albert, Xu, David, Young, Joshua A., Yung, Edward S., Yu-Wai-Man, Cynthia, Zein, Wadih M., and Zhu, Ivy

Published
2019
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50. RAPID VISION LOSS ASSOCIATED WITH FLUDARABINE ADMINISTRATION IN THREE PATIENTS

Author

BISHOP, RACHEL J., DING, XIAOYAN, HELLER, CHARLES K., ILLEI, GABOR, CARUSO, RAFAEL C., CUNNINGHAM, DENISE, PAVLETIC, STEVEN, and CHAN, CHI-CHAO

Subjects
Male, Brain Diseases, Antineoplastic Agents, Middle Aged, Myeloablative Agonists, Blindness, Magnetic Resonance Imaging, Article, Retina, Young Adult, Fatal Outcome, Retinal Diseases, Electroretinography, Evoked Potentials, Visual, Humans, Lupus Erythematosus, Systemic, Female, Melanoma, Vidarabine, Retrospective Studies
Abstract

The purpose of this study was to report the clinical and pathologic findings of three cases of rapid vision loss associated with fludarabine toxicity.A retrospective, single-center case series was conducted. Autopsies of the eyes from three cases were performed.A 23-year-old man (Case 1) with systemic lupus erythematosus developed rapid and severe vision loss, generalized neurologic decline, and eventual death after administration of fludarabine before stem cell transplantation. A 48-year-old woman (Case 2) and a 60-year-old man (Case 3), both with metastatic melanoma, had similar courses after receiving fludarabine as part of a preparatory regimen before adoptive cell therapy. Fundus examination showed punctuate yellow flecks in the macula after visual decline in two cases. In all three cases, serum antiretinal antibodies were negative before and after treatment; electrophysiological testing showed markedly decreased B-waves; and pathologic analysis showed loss of retinal bipolar and ganglion cells, gliosis within the retina and optic nerve, and optic nerve atrophy.Fludarabine toxicity can result in severe vision loss attributable to damage to retinal bipolar and ganglion cells. Although effective treatments are not known, care should be taken to consider fludarabine toxicity in patients who present with vision loss approximately 1 month after treatment.

Published
2010

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