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3. TENAYA and LUCERNE: Two-Year Results from the Phase 3 Neovascular Age-Related Macular Degeneration Trials of Faricimab with Treat-and-Extend Dosing in Year 2

Author

Abbey, Ashkan, Abdulaeva, Elmira, Abraham, Prema, Adan Civera, Alfredo, Agostini, Hansjurgen, Alezzandrini, Arturo, Alfaro, Virgil, Almony, Arghavan, Altay, Lebriz, Amini, Payam, Antoszyk, Andrew, Aradi, Etelka, Arias, Luis, Arnold, Jennifer, Asaria, Riaz, Astakhov, Sergei, Astakhov, Yury, Awh, Carl C., Balaratnasingam, Chandra, Banerjee, Sanjiv, Baumal, Caroline, Becker, Matthias, Belfort, Rubens, Jr., Bratko, Galina, Bridges, William Z., Jr., Brown, Jamin, Brown, David M., Budzinskaya, Maria, Buffet, Sylvia, Burgess, Stuart, Byon, Iksoo, Cagini, Carlo, Calzada, Jorge, Cameron, Stone, Campochiaro, Peter, Carlson, John, Carneiro, Angela, Chan, Clement, Chang, Emmanuel, Chang, Andrew, Chao, Daniel, Chaudhry, Nauman, Chee, Caroline, Cheek, Andrew, Chen, Shih-Jen, Chen, San-Ni, Cheung, Gemmy, Chexal, Saradha, Chittum, Mark, Chow, David, Cole, Abosede, Connolly, Brian, Cornut, Pierre Loic, Couvillion, Stephen, Danzig, Carl, Daskalov, Vesselin, Dessouki, Amr, Devin, Francois, Dollin, Michael, Dolz, Rosa, Downey, Louise, Dreyer, Richard, Dugel, Pravin, Eichenbaum, David, Eldem, Bora, Engstrom, Robert, Escobar, Joan Josep, Eter, Nicole, Faber, David W., Falk, Naomi, Feiner, Leonard, Vega, Alvaro Fernandez, Ferrone, Philip, Figueroa, Marta, Fine, Howard, Fineman, Mitchell, Fox, Gregory M., Francais, Catherine, Franco, Pablo, Fraser-Bell, Samantha, Fung, Nicholas, Sola, Federico Furno, Gale, Richard, Garcia-Layana, Alfredo, Gasperini, Julie, Gawecki, Maciej, Ghanchi, Faruque, Gill, Manjot, Giunta, Michel, Glaser, David, Goldstein, Michaella, Ulla, Francisco Gomez, Gomi, Fumi, Gonzalez, Victor, Graff, Jordan, Gupta, Sunil, Guthoff, Rainer, Guymer, Robyn, Haas, Anton, Hampton, Robert, Hatz, Katja, Hayashi, Ken, Heier, Jeffrey, Herba, Ewa, Hershberger, Vrinda, Higgins, Patrick, Holekamp, Nancy, Honda, Shigeru, Howard, James, Hu, Allen, Huddleston, Stephen, Iida, Tomohiro, Imaizumi, Hiroko, Ito, Yasuo, Ito, Yasuki, Itty, Sujit, Javey, Golnaz, Javid, Cameron, Kaga, Tatsushi, Kaluzny, Jakub, Kang, Se Woong, Kapoor, Kapil, Karabas, Levent, Kawasaki, Tsutomu, Kelty, Patrick, Kerenyi, Agnes, Khanani, Arshad, Khoramnia, Ramin, Khurana, Rahul, Kimura, Kazuhiro, Klein-Mascia, Kendra, Kobayashi, Namie, Kodjikian, Laurent, Koizumi, Hideki, Kokame, Gregg, Kulikov, Alexey, Kwong, Henry, Kwun, Robert, Lai, Timothy, Lai, Chi-Chun, Lalonde, Laurent, Lanzetta, Paolo, Larsen, Michael, Lavina, Adrian, Lee, Won Ki, Lee, ji Eun, Lee, Seong, Levy, Jaime, Lindsell, Lucas, Liu, Mimi, London, Nikolas, Lotery, Andrew, Lozano Rechy, David, Luckie, Alan, Maberley, David, Maeno, Takatoshi, Mahmood, Sajjad, Makkouk, Fuad, Marcus, Dennis, Margherio, Alan, Masse, Helene, Matsubara, Hisashi, Maturi, Raj, Mehta, Sonia, Menon, Geeta, Mentes, Jale, Michels, Mark, Mitamura, Yoshinori, Mitchell, Paul, Mohamed, Quresh, Mones, Jordi, Lobo, Rodrigo Montemayor, Montero, Javier, Moore, Jeffrey, Mori, Ryusaburo, Morori-Katz, Haia, Mukherjee, Raj, Murata, Toshinori, Muzyka-Wozniak, Maria, Nardi, Marco, Narendran, Niro, Nicolo, Massimo, Nielsen, Jared, Nishimura, Tetsuya, Noda, Kousuke, Nowinska, Anna, Oh, Hideyasu, Ohr, Matthew, Okada, Annabelle, Oleksy, Piotr, Ono, Shinji, Ozdek, Sengul, Ozturk, Banu, Pablo, Luis, Park, Kyu Hyung, Parke, D. Wilk, Parravano, Maria Cristina, Patel, Praveen, Patel, Apurva, Patel, Sunil, Patel, Sugat, Pauleikhoff, Daniel, Pearce, Ian, Pearlman, Joel, Petkova, Iva, Pieramici, Dante, Pozdeyeva, Nadezhda, Qureshi, Jawad, Raczynska, Dorota, Ramirez Estudillo, Juan, Rathod, Rajiv, Razavi, Hessam, Regillo, Carl, Reilly, Gayatri, Ricci, Federico, Rich, Ryan, Romanowska-Dixon, Bożena, Rosenblatt, Irit, Ruiz Moreno, Jose Maria, Sacu, Stefan, Saedon, Habiba, Saeed, Usman, Sagong, Min, Sakamoto, Taiji, Sandhu, Sukhpal, Sararols, Laura, Saravia, Mario, Schadlu, Ramin, Schlottmann, Patricio, Sekiryu, Tetsuju, Seres, András, Sermet, Figen, Shah, Sumit, Shah, Rohan, Shah, Ankur, Sheidow, Thomas, Sheth, Veeral, Shiragami, Chieko, Sikorski, Bartosz, Silva, Rufino, Singerman, Lawrence, Sisk, Robert, Sørensen, Torben L., Souied, Eric, Spinak, David-J., Staurenghi, Giovanni, Steinmetz, Robert, Stoller, Glenn, Stoltz, Robert, Suan, Eric, Suner, Ivan, Yzer, Suzanne, Tadayoni, Ramin, Takahashi, Kanji, Takayama, Kei, Taleb, Alexandre, Talks, James, Terasaki, Hiroko, Thompson, John, Toth-Molnar, Edit, Tran, Khoi, Tuli, Raman, Uchiyama, Eduardo, Vajas, Attila, Lith-Verhoeven, Janneke Van, Varsanyi, Balazs, Viola, Francesco, Virgili, Gianni, Vogt, Gábor, Völker, Michael, Warrow, David, Weber, Pamela, Wells, John A., Wickremasinghe, Sanjeewa, Wieland, Mark, Williams, Geoff, Williams, Thomas, Wong, David, Wong, King, Wong, James, Wong, Ian, Wong, Robert, Wowra, Bogumil, Wykoff, Charles C., Yamashita, Ayana, Yasuda, Kanako, Yilmaz, Gursel, Yiu, Glenn, Yoneda, Ai, Yoon, Young Hee, Yoreh, Barak, Yu, Hyeong Gon, Yu, Seung Young, Yurieva, Tatiana, Zambrano, Alberto, Zatorska, Barbara, Zeolite, Carlos, Khanani, Arshad M., Kotecha, Aachal, Chen, Youxin, Heier, Jeffrey S., Holz, Frank G., Ives, Jane A., Lim, Jennifer I., Lin, Hugh, Michels, Stephan, Quezada Ruiz, Carlos, Schmidt-Erfurth, Ursula, Silverman, David, Singh, Rishi, Swaminathan, Balakumar, and Willis, Jeffrey R.

Published
2024
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7. Efficacy, durability, and safety of intravitreal faricimab up to every 16 weeks for neovascular age-related macular degeneration (TENAYA and LUCERNE): two randomised, double-masked, phase 3, non-inferiority trials

Author

Abbey, Ashkan, Abdulaeva, Elmira, Abraham, Prema, Adan Civera, Alfredo, Agostini, Hansjurgen, Alezzandrini, Arturo, Alfaro, Virgil, Almony, Arghavan, Altay, Lebriz, Amini, Payam, Antoszyk, Andrew, Aradi, Etelka, Arias, Luis, Arnold, Jennifer, Asaria, Riaz, Astakhov, Sergei, Astakhov, Yury, Awh, Carl C., Balaratnasingam, Chandra, Banerjee, Sanjiv, Baumal, Caroline, Becker, Matthias, Belfort, Rubens, Jr., Bratko, Galina, Bridges, William Jr. Z, Brown, Jamin, Brown, David M., Budzinskaya, Maria, Buffet, Sylvia, Burgess, Stuart, Byon, Iksoo, Cagini, Carlo, Calzada, Jorge, Cameron, Stone, Campochiaro, Peter, Carlson, John, Carneiro, Angela, Chan, Clement, Chang, Emmanuel, Chang, Andrew, Chao, Daniel, Chaudhry, Nauman, Chee, Caroline, Cheek, Andrew, Chen, Shih-Jen, Chen, San-Ni, Cheung, Gemmy, Chexal, Saradha, Chittum, Mark, Chow, David, Cole, Abosede, Connolly, Brian, Cornut, Pierre Loic, Couvillion, Stephen, Danzig, Carl, Daskalov, Vesselin, Dessouki, Amr, Devin, Francois, Dollin, Michael, Dolz, Rosa, Downey, Louise, Dreyer, Richard, Dugel, Pravin, Eichenbaum, David, Eldem, Bora, Engstrom, Robert, Escobar, Joan Josep, Eter, Nicole, Faber, David W., Falk, Naomi, Feiner, Leonard, Fernandez Vega, Alvaro, Ferrone, Philip, Figueroa, Marta, Fine, Howard, Fineman, Mitchell, Fox, Gregory M., Francais, Catherine, Franco, Pablo, Fraser-Bell, Samantha, Fung, Nicholas, Furno Sola, Federico, Gale, Richard, Garcia-Layana, Alfredo, Gasperini, Julie, Gawecki, Maciej, Ghanchi, Faruque, Gill, Manjot, Giunta, Michel, Glaser, David, Goldstein, Michaella, Gomez Ulla, Francisco, Gomi, Fumi, Gonzalez, Victor, Graff, Jordan, Gupta, Sunil, Guthoff, Rainer, Guymer, Robyn, Haas, Anton, Hampton, Robert, Hatz, Katja, Hayashi, Ken, Heier, Jeffrey, Herba, Ewa, Hershberger, Vrinda, Higgins, Patrick, Holekamp, Nancy, Honda, Shigeru, Howard, James, Hu, Allen, Huddleston, Stephen, Iida, Tomohiro, Imaizumi, Hiroko, Ito, Yasuo, Ito, Yasuki, Itty, Sujit, Javey, Golnaz, Javid, Cameron, Kaga, Tatsushi, Kaluzny, Jakub, Kang, Se Woong, Kapoor, Kapil, Karabas, Levent, Kawasaki, Tsutomu, Kelty, Patrick, Kerenyi, Agnes, Khanani, Arshad, Khoramnia, Ramin, Khurana, Rahul, Kimura, Kazuhiro, Klein-Mascia, Kendra, Kobayashi, Namie, Kodjikian, Laurent, Koizumi, Hideki, Kokame, Gregg, Kulikov, Alexey, Kwong, Henry, Kwun, Robert, Lai, Timothy, Lai, Chi-Chun, Lalonde, Laurent, Lanzetta, Paolo, Larsen, Michael, Lavina, Adrian, Lee, Won Ki, Lee, ji Eun, Lee, Seong, Levy, Jaime, Lindsell, Lucas, Liu, Mimi, London, Nikolas, Lotery, Andrew, Lozano Rechy, David, Luckie, Alan, Maberley, David, Maeno, Takatoshi, Mahmood, Sajjad, Makkouk, Fuad, Marcus, Dennis, Margherio, Alan, Masse, Helene, Matsubara, Hisashi, Maturi, Raj, Mehta, Sonia, Menon, Geeta, Mentes, Jale, Michels, Mark, Mitamura, Yoshinori, Mitchell, Paul, Mohamed, Quresh, Mones, Jordi, Montemayor Lobo, Rodrigo, Montero, Javier, Moore, Jeffrey, Mori, Ryusaburo, Morori-Katz, Haia, Mukherjee, Raj, Murata, Toshinori, Muzyka-Wozniak, Maria, Nardi, Marco, Narendran, Niro, Nicolo, Massimo, Nielsen, Jared, Nishimura, Tetsuya, Noda, Kousuke, Nowinska, Anna, Oh, Hideyasu, Ohr, Matthew, Okada, Annabelle, Oleksy, Piotr, Ono, Shinji, Ozdek, Sengul, Ozturk, Banu, Pablo, Luis, Park, Kyu Hyung, Parke, D. Wilki, Parravano, Maria Cristina, Patel, Praveen, Patel, Apurva, Patel, Sunil, Patel, Sugat, Pauleikhoff, Daniel, Pearce, Ian, Pearlman, Joel, Petkova, Iva, Pieramici, Dante, Pozdeyeva, Nadezhda, Qureshi, Jawad, Raczynska, Dorota, Ramirez Estudillo, Juan, Rathod, Rajiv, Razavi, Hessam, Regillo, Carl, Reilly, Gayatri, Ricci, Federico, Rich, Ryan, Romanowska-Dixon, Bożena, Rosenblatt, Irit, Ruiz Moreno, Jose Maria, Sacu, Stefan, Saedon, Habiba, Saeed, Usman, Sagong, Min, Sakamoto, Taiji, Sandhu, Sukhpal, Sararols, Laura, Saravia, Mario, Schadlu, Ramin, Schlottmann, Patricio, Sekiryu, Tetsuju, Seres, András, Sermet, Figen, Shah, Sumit, Shah, Rohan, Shah, Ankur, Sheidow, Thomas, Sheth, Veeral, Shiragami, Chieko, Sikorski, Bartosz, Silva, Rufino, Singerman, Lawrence, Sisk, Robert, Sørensen, Torben L., Souied, Eric, Spinak, David-J, Staurenghi, Giovanni, Steinmetz, Robert, Stoller, Glenn, Stoltz, Robert, Suan, Eric, Suner, Ivan, Suzanne, Yzer, Tadayoni, Ramin, Takahashi, Kanji, Takayama, Kei, Taleb, Alexandre, Talks, James, Terasaki, Hiroko, Thompson, John, Toth-Molnar, Edit, Tran, Khoi, Tuli, Raman, Uchiyama, Eduardo, Vajas, Attila, Van Lith-Verhoeven, Janneke, Varsanyi, Balazs, Viola, Francesco, Virgili, Gianni, Vogt, Gábor, Völker, Michael, Warrow, David, Weber, Pamela, Wells, John A., Wickremasinghe, Sanjeewa, Wieland, Mark, Williams, Geoff, Williams, Thomas, Wong, David, Wong, King, Wong, James, Wong, Ian, Wong, Robert, Wowra, Bogumil, Wykoff, Charles C., Yamashita, Ayana, Yasuda, Kanako, Yilmaz, Gursel, Yiu, Glenn, Yoneda, Ai, Yoon, Young Hee, Yoreh, Barak, Yu, HyeongGon, Yu, Seung Young, Yurieva, Tatiana, Zambrano, Alberto, Zatorska, Barbara, Zeolite, Carlos, Heier, Jeffrey S, Khanani, Arshad M, Quezada Ruiz, Carlos, Basu, Karen, Ferrone, Philip J, Brittain, Christopher, Figueroa, Marta S, Lin, Hugh, Holz, Frank G, Patel, Vaibhavi, Lai, Timothy Y Y, Silverman, David, Swaminathan, Balakumar, Cheung, Chui Ming Gemmy, and Wong, Tien Y

Published
2022
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9. Benign Yellow Dot Maculopathy A New Macular Phenotype

Author

Borman, Arundhati Dev, Rachitskaya, Aleksandra, Suzani, Martina, Sisk, Robert A, Ahmed, Zubair M, Holder, Graham E, Cipriani, Valentina, Arno, Gavin, Webster, Andrew R, Hufnagel, Robert B, Berrocal, Audina, and Moore, Anthony T

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Prevention, Clinical Research, Human Genome, Genetics, Macular Degeneration, Brain Disorders, Eye Disease and Disorders of Vision, Neurosciences, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, Electroretinography, Exome, Eye Proteins, Female, Fluorescein Angiography, Follow-Up Studies, Fundus Oculi, Humans, Macula Lutea, Male, Middle Aged, Mutation, Pedigree, Phenotype, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity, Young Adult, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

PurposeTo describe a novel macular phenotype that is associated with normal visual function.DesignRetrospective, observational case series.ParticipantsThirty-six affected individuals from 23 unrelated families.MethodsThis was a retrospective study of patients who had a characteristic macular phenotype. Subjects underwent a full ocular examination, electrophysiologic studies, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence imaging. Genomic analyses were performed using haplotype sharing analysis and whole-exome sequencing.Main outcome measuresVisual acuity, retinal features, electroretinography, and whole-exome sequencing.ResultsTwenty-six of 36 subjects were female. The median age of subjects at presentation was 15 years (range, 5-59 years). The majority of subjects were asymptomatic and presented after a routine eye examination (22/36 subjects) or after screening because of a positive family history (13/36 subjects) or by another ophthalmologist (1/36 subjects). Of the 3 symptomatic subjects, 2 had reduced visual acuity secondary to nonorganic visual loss and bilateral ametropic amblyopia with strabismus. Visual acuity was 0.18 logarithm of the minimum angle of resolution (logMAR) or better in 30 of 33 subjects. Color vision was normal in all subjects tested, except for the subject with nonorganic visual loss. All subjects had bilateral symmetric multiple yellow dots at the macula. In the majority of subjects, these were evenly distributed throughout the fovea, but in 9 subjects they were concentrated in the nasal parafoveal area. The dots were hyperautofluorescent on fundus autofluorescence imaging. The OCT imaging was generally normal, but in 6 subjects subtle irregularities at the inner segment ellipsoid band were seen. Electrophysiologic studies identified normal macular function in 17 of 19 subjects and normal full-field retinal function in all subjects. Whole-exome analysis across 3 unrelated families found no pathogenic variants in known macular dystrophy genes. Haplotype sharing analysis in 1 family excluded linkage with the North Carolina macular dystrophy (MCDR1) locus.ConclusionsA new retinal phenotype is described, which is characterized by bilateral multiple early-onset yellow dots at the macula. Visual function is normal, and the condition is nonprogressive. In familial cases, the phenotype seems to be inherited in an autosomal dominant manner, but a causative gene is yet to be ascertained.

Published
2017

10. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

Author

Liu, James, primary, He, Yi, additional, Lwin, Cara, additional, Han, Marina, additional, Guan, Bin, additional, Naik, Amelia, additional, Bender, Chelsea, additional, Moore, Nia, additional, Huryn, Laryssa A, additional, Sergeev, Yuri V, additional, Qian, Haohua, additional, Zeng, Yong, additional, Dong, Lijin, additional, Liu, Pinghu, additional, Lei, Jingqi, additional, Haugen, Carl J, additional, Prasov, Lev, additional, Shi, Ruifang, additional, Dollfus, Hélène, additional, Aristodemou, Petros, additional, Laich, Yannik, additional, Németh, Andrea H, additional, Taylor, John, additional, Downes, Susan, additional, Krawczynski, Maciej R, additional, Meunier, Isabelle, additional, Strassberg, Melissa, additional, Tenney, Jessica, additional, Gao, Josephine, additional, Shear, Matthew A, additional, Moore, Anthony T, additional, Duncan, Jacque L, additional, Menendez, Beatriz, additional, Hull, Sarah, additional, Vincent, Andrea L, additional, Siskind, Carly E, additional, Traboulsi, Elias I, additional, Blackstone, Craig, additional, Sisk, Robert A, additional, Miraldi Utz, Virginia, additional, Webster, Andrew R, additional, Michaelides, Michel, additional, Arno, Gavin, additional, Synofzik, Matthis, additional, and Hufnagel, Robert B, additional

Published
2024
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13. Ultrawidefield Fluorescein Angiography and OCT Findings in Children and Young Adults with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

Author

Ebert, Jared J., Maccora, Ilaria, Sapp, Camera C., Nguyen, Tiffany, Sisk, Robert A., Srivastava, Sunil K., Angeles-Han, Sheila T., and Sood, Arjun B.

Abstract

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic (CAPN5) autoimmune condition typically diagnosed in adulthood and characterized by a triad of inflammation, retinal degeneration, and neovascularization. We report novel multimodal imaging findings in children and young adults with ADNIV, and early treatment response to short-duration local and systemic corticosteroids.

Published
2024
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14. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Author

Hufnagel, Robert B, Arno, Gavin, Hein, Nichole D, Hersheson, Joshua, Prasad, Megana, Anderson, Yvonne, Krueger, Laura A, Gregory, Louise C, Stoetzel, Corinne, Jaworek, Thomas J, Hull, Sarah, Li, Abi, Plagnol, Vincent, Willen, Christi M, Morgan, Thomas M, Prows, Cynthia A, Hegde, Rashmi S, Riazuddin, Saima, Grabowski, Gregory A, Richardson, Rudy J, Dieterich, Klaus, Huang, Taosheng, Revesz, Tamas, Martinez-Barbera, JP, Sisk, Robert A, Jefferies, Craig, Houlden, Henry, Dattani, Mehul T, Fink, John K, Dollfus, Helene, Moore, Anthony T, and Ahmed, Zubair M

Subjects
Neurodegenerative, Neurosciences, Rare Diseases, Genetics, Brain Disorders, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Amino Acid Sequence, Animals, Blepharoptosis, Carboxylic Ester Hydrolases, Central Nervous System, Developmental Disabilities, Dwarfism, Embryonic Development, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Humans, Hypertrichosis, Intellectual Disability, Laurence-Moon Syndrome, Molecular Sequence Data, Mutation, Phenotype, Phospholipases, Protein Structure, Tertiary, Retina, Retinitis Pigmentosa, Zebrafish, Dermatology, Developmental, Neuro endocrinology, Ophthalmology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

BackgroundOliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause.MethodsWhole-exome sequencing was performed to identify the genetic causes of these disorders. Mutations were functionally validated in zebrafish pnpla6 morphants. Embryonic expression was evaluated via in situ hybridisation in human embryonic sections. Human neurohistopathology was performed to characterise cerebellar degeneration. Enzymatic activities were measured in patient-derived fibroblast cell lines.ResultsEight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase (NTE). PNPLA6 expression was found in the developing human eye, pituitary and brain. In zebrafish, the pnpla6 curly-tailed morphant phenotype was fully rescued by wild-type human PNPLA6 mRNA and not by mutation-harbouring mRNAs. NTE enzymatic activity was significantly reduced in fibroblast cells derived from individuals with Oliver-McFarlane syndrome. Intriguingly, adult brain histology from a patient with highly overlapping features of Oliver-McFarlane and Laurence-Moon syndromes revealed extensive cerebellar degeneration and atrophy.ConclusionsPreviously, PNPLA6 mutations have been associated with spastic paraplegia type 39, Gordon-Holmes syndrome and Boucher-Neuhäuser syndromes. Discovery of these additional PNPLA6-opathies further elucidates a spectrum of neurodevelopmental and neurodegenerative disorders associated with NTE impairment and suggests a unifying mechanism with diagnostic and prognostic importance.

Published
2015

15. TENAYA and LUCERNE

Author

Khanani, Arshad M., primary, Kotecha, Aachal, additional, Chang, Andrew, additional, Chen, Shih-Jen, additional, Chen, Youxin, additional, Guymer, Robyn, additional, Heier, Jeffrey S., additional, Holz, Frank G., additional, Iida, Tomohiro, additional, Ives, Jane A., additional, Lim, Jennifer I., additional, Lin, Hugh, additional, Michels, Stephan, additional, Quezada Ruiz, Carlos, additional, Schmidt-Erfurth, Ursula, additional, Silverman, David, additional, Singh, Rishi, additional, Swaminathan, Balakumar, additional, Willis, Jeffrey R., additional, Tadayoni, Ramin, additional, Abbey, Ashkan, additional, Abdulaeva, Elmira, additional, Abraham, Prema, additional, Adan Civera, Alfredo, additional, Agostini, Hansjurgen, additional, Alezzandrini, Arturo, additional, Alfaro, Virgil, additional, Almony, Arghavan, additional, Altay, Lebriz, additional, Amini, Payam, additional, Antoszyk, Andrew, additional, Aradi, Etelka, additional, Arias, Luis, additional, Arnold, Jennifer, additional, Asaria, Riaz, additional, Astakhov, Sergei, additional, Astakhov, Yury, additional, Awh, Carl C., additional, Balaratnasingam, Chandra, additional, Banerjee, Sanjiv, additional, Baumal, Caroline, additional, Becker, Matthias, additional, Belfort, Rubens, additional, Bratko, Galina, additional, Bridges, William Z., additional, Brown, Jamin, additional, Brown, David M., additional, Budzinskaya, Maria, additional, Buffet, Sylvia, additional, Burgess, Stuart, additional, Byon, Iksoo, additional, Cagini, Carlo, additional, Calzada, Jorge, additional, Cameron, Stone, additional, Campochiaro, Peter, additional, Carlson, John, additional, Carneiro, Angela, additional, Chan, Clement, additional, Chang, Emmanuel, additional, Chao, Daniel, additional, Chaudhry, Nauman, additional, Chee, Caroline, additional, Cheek, Andrew, additional, Chen, San-Ni, additional, Cheung, Gemmy, additional, Chexal, Saradha, additional, Chittum, Mark, additional, Chow, David, additional, Cole, Abosede, additional, Connolly, Brian, additional, Cornut, Pierre Loic, additional, Couvillion, Stephen, additional, Danzig, Carl, additional, Daskalov, Vesselin, additional, Dessouki, Amr, additional, Devin, Francois, additional, Dollin, Michael, additional, Dolz, Rosa, additional, Downey, Louise, additional, Dreyer, Richard, additional, Dugel, Pravin, additional, Eichenbaum, David, additional, Eldem, Bora, additional, Engstrom, Robert, additional, Escobar, Joan Josep, additional, Eter, Nicole, additional, Faber, David W., additional, Falk, Naomi, additional, Feiner, Leonard, additional, Vega, Alvaro Fernandez, additional, Ferrone, Philip, additional, Figueroa, Marta, additional, Fine, Howard, additional, Fineman, Mitchell, additional, Fox, Gregory M., additional, Francais, Catherine, additional, Franco, Pablo, additional, Fraser-Bell, Samantha, additional, Fung, Nicholas, additional, Sola, Federico Furno, additional, Gale, Richard, additional, Garcia-Layana, Alfredo, additional, Gasperini, Julie, additional, Gawecki, Maciej, additional, Ghanchi, Faruque, additional, Gill, Manjot, additional, Giunta, Michel, additional, Glaser, David, additional, Goldstein, Michaella, additional, Ulla, Francisco Gomez, additional, Gomi, Fumi, additional, Gonzalez, Victor, additional, Graff, Jordan, additional, Gupta, Sunil, additional, Guthoff, Rainer, additional, Haas, Anton, additional, Hampton, Robert, additional, Hatz, Katja, additional, Hayashi, Ken, additional, Heier, Jeffrey, additional, Herba, Ewa, additional, Hershberger, Vrinda, additional, Higgins, Patrick, additional, Holekamp, Nancy, additional, Honda, Shigeru, additional, Howard, James, additional, Hu, Allen, additional, Huddleston, Stephen, additional, Imaizumi, Hiroko, additional, Ito, Yasuo, additional, Ito, Yasuki, additional, Itty, Sujit, additional, Javey, Golnaz, additional, Javid, Cameron, additional, Kaga, Tatsushi, additional, Kaluzny, Jakub, additional, Kang, Se Woong, additional, Kapoor, Kapil, additional, Karabas, Levent, additional, Kawasaki, Tsutomu, additional, Kelty, Patrick, additional, Kerenyi, Agnes, additional, Khanani, Arshad, additional, Khoramnia, Ramin, additional, Khurana, Rahul, additional, Kimura, Kazuhiro, additional, Klein-Mascia, Kendra, additional, Kobayashi, Namie, additional, Kodjikian, Laurent, additional, Koizumi, Hideki, additional, Kokame, Gregg, additional, Kulikov, Alexey, additional, Kwong, Henry, additional, Kwun, Robert, additional, Lai, Timothy, additional, Lai, Chi-Chun, additional, Lalonde, Laurent, additional, Lanzetta, Paolo, additional, Larsen, Michael, additional, Lavina, Adrian, additional, Lee, Won Ki, additional, Lee, ji Eun, additional, Lee, Seong, additional, Levy, Jaime, additional, Lindsell, Lucas, additional, Liu, Mimi, additional, London, Nikolas, additional, Lotery, Andrew, additional, Lozano Rechy, David, additional, Luckie, Alan, additional, Maberley, David, additional, Maeno, Takatoshi, additional, Mahmood, Sajjad, additional, Makkouk, Fuad, additional, Marcus, Dennis, additional, Margherio, Alan, additional, Masse, Helene, additional, Matsubara, Hisashi, additional, Maturi, Raj, additional, Mehta, Sonia, additional, Menon, Geeta, additional, Mentes, Jale, additional, Michels, Mark, additional, Mitamura, Yoshinori, additional, Mitchell, Paul, additional, Mohamed, Quresh, additional, Mones, Jordi, additional, Lobo, Rodrigo Montemayor, additional, Montero, Javier, additional, Moore, Jeffrey, additional, Mori, Ryusaburo, additional, Morori-Katz, Haia, additional, Mukherjee, Raj, additional, Murata, Toshinori, additional, Muzyka-Wozniak, Maria, additional, Nardi, Marco, additional, Narendran, Niro, additional, Nicolo, Massimo, additional, Nielsen, Jared, additional, Nishimura, Tetsuya, additional, Noda, Kousuke, additional, Nowinska, Anna, additional, Oh, Hideyasu, additional, Ohr, Matthew, additional, Okada, Annabelle, additional, Oleksy, Piotr, additional, Ono, Shinji, additional, Ozdek, Sengul, additional, Ozturk, Banu, additional, Pablo, Luis, additional, Park, Kyu Hyung, additional, Parke, D. Wilk, additional, Parravano, Maria Cristina, additional, Patel, Praveen, additional, Patel, Apurva, additional, Patel, Sunil, additional, Patel, Sugat, additional, Pauleikhoff, Daniel, additional, Pearce, Ian, additional, Pearlman, Joel, additional, Petkova, Iva, additional, Pieramici, Dante, additional, Pozdeyeva, Nadezhda, additional, Qureshi, Jawad, additional, Raczynska, Dorota, additional, Ramirez Estudillo, Juan, additional, Rathod, Rajiv, additional, Razavi, Hessam, additional, Regillo, Carl, additional, Reilly, Gayatri, additional, Ricci, Federico, additional, Rich, Ryan, additional, Romanowska-Dixon, Bożena, additional, Rosenblatt, Irit, additional, Ruiz Moreno, Jose Maria, additional, Sacu, Stefan, additional, Saedon, Habiba, additional, Saeed, Usman, additional, Sagong, Min, additional, Sakamoto, Taiji, additional, Sandhu, Sukhpal, additional, Sararols, Laura, additional, Saravia, Mario, additional, Schadlu, Ramin, additional, Schlottmann, Patricio, additional, Sekiryu, Tetsuju, additional, Seres, András, additional, Sermet, Figen, additional, Shah, Sumit, additional, Shah, Rohan, additional, Shah, Ankur, additional, Sheidow, Thomas, additional, Sheth, Veeral, additional, Shiragami, Chieko, additional, Sikorski, Bartosz, additional, Silva, Rufino, additional, Singerman, Lawrence, additional, Sisk, Robert, additional, Sørensen, Torben L., additional, Souied, Eric, additional, Spinak, David-J., additional, Staurenghi, Giovanni, additional, Steinmetz, Robert, additional, Stoller, Glenn, additional, Stoltz, Robert, additional, Suan, Eric, additional, Suner, Ivan, additional, Yzer, Suzanne, additional, Takahashi, Kanji, additional, Takayama, Kei, additional, Taleb, Alexandre, additional, Talks, James, additional, Terasaki, Hiroko, additional, Thompson, John, additional, Toth-Molnar, Edit, additional, Tran, Khoi, additional, Tuli, Raman, additional, Uchiyama, Eduardo, additional, Vajas, Attila, additional, Lith-Verhoeven, Janneke Van, additional, Varsanyi, Balazs, additional, Viola, Francesco, additional, Virgili, Gianni, additional, Vogt, Gábor, additional, Völker, Michael, additional, Warrow, David, additional, Weber, Pamela, additional, Wells, John A., additional, Wickremasinghe, Sanjeewa, additional, Wieland, Mark, additional, Williams, Geoff, additional, Williams, Thomas, additional, Wong, David, additional, Wong, King, additional, Wong, James, additional, Wong, Ian, additional, Wong, Robert, additional, Wowra, Bogumil, additional, Wykoff, Charles C., additional, Yamashita, Ayana, additional, Yasuda, Kanako, additional, Yilmaz, Gursel, additional, Yiu, Glenn, additional, Yoneda, Ai, additional, Yoon, Young Hee, additional, Yoreh, Barak, additional, Yu, Hyeong Gon, additional, Yu, Seung Young, additional, Yurieva, Tatiana, additional, Zambrano, Alberto, additional, Zatorska, Barbara, additional, and Zeolite, Carlos, additional

Published
2024
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17. Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

Author

Cideciyan, Artur V, Hufnagel, Robert B, Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B, Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C, Hardcastle, Alison J, Moore, Anthony T, Sisk, Robert A, Ahmed, Zubair M, Kohl, Susanne, Wissinger, Bernd, and Jacobson, Samuel G

Subjects
Rare Diseases, Neurosciences, Orphan Drug, Eye Disease and Disorders of Vision, Gene Therapy, Genetics, Eye, Adolescent, Adult, Animals, Child, Child, Preschool, Color Vision Defects, Female, Gene Deletion, Genetic Therapy, Humans, Mice, Middle Aged, Mutation, Retinal Cone Photoreceptor Cells, Rod Opsins
Abstract

Human X-linked blue-cone monochromacy (BCM), a disabling congenital visual disorder of cone photoreceptors, is a candidate disease for gene augmentation therapy. BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression. The fate of opsin-deficient cone cells is unknown. We know that rod opsin null mutant mice show rapid postnatal death of rod photoreceptors. Using in vivo histology with high-resolution retinal imaging, we studied a cohort of 20 BCM patients (age range 5-58) with large deletions in the red/green opsin gene array. Already in the first years of life, retinal structure was not normal: there was partial loss of photoreceptors across the central retina. Remaining cone cells had detectable outer segments that were abnormally shortened. Adaptive optics imaging confirmed the existence of inner segments at a spatial density greater than that expected for the residual blue cones. The evidence indicates that human cones in patients with deletions in the red/green opsin gene array can survive in reduced numbers with limited outer segment material, suggesting potential value of gene therapy for BCM.

Published
2013

20. Classification and growth rate of chorioretinal atrophy after voretigene neparvovec-rzyl for RPE65-mediated retinal degeneration

Author

Bommakanti, Nikhil, primary, Young, Benjamin K., additional, Sisk, Robert A., additional, Berrocal, Audina M., additional, Duncan, Jacque L., additional, Bakall, Benjamin, additional, Mathias, Marc T., additional, Ahmed, Ishrat, additional, Chorfi, Sarah, additional, Comander, Jason, additional, Nagiel, Aaron, additional, and Besirli, Cagri G., additional

Published
2023
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21. A SLEEPER WAKES: THE COOK CREEK RIDGE FIRE.

Author

SISK, ROBERT W.

Subjects
FOREST fires, WILDFIRES, ROTORS (Helicopters), FIREPROOFING agents, ATTACK helicopters, CIVILIAN evacuation
Abstract

The article, titled "A Sleeper Wakes: The Cook Creek Ridge Fire," is an excerpt from the book Rampage by Firestorm. It describes a harrowing wildfire battle near Garden Valley in the Boise National Forest. The author, Robert W. Sisk, recounts his experience as a helitack crew pilot during a lightning-sparked forest fire that quickly escalated into a dangerous conflagration. The fire trapped a group of firefighters, who were eventually rescued by helicopter. The fire burned for a week and consumed over 700 acres of forest before being brought under control by a team of firefighters and aerial support. [Extracted from the article]

Published
2024

25. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders

Author

Liu, James, primary, He, Yi, additional, Lwin, Cara, additional, Han, Marina, additional, Guan, Bin, additional, Naik, Amelia, additional, Bender, Chelsea, additional, Moore, Nia, additional, Huryn, Laryssa A., additional, Sergeev, Yuri, additional, Qian, Haohua, additional, Zeng, Yong, additional, Dong, Lijin, additional, Liu, Pinghu, additional, Lei, Jingqi, additional, Haugen, Carl J., additional, Prasov, Lev, additional, Shi, Ruifang, additional, Dollfus, Hélène, additional, Aristodemou, Petros, additional, Laich, Yannik, additional, Németh, Andrea H., additional, Taylor, John, additional, Downes, Susan, additional, Krawczynski, Maciej, additional, Meunier, Isabelle, additional, Strassberg, Melissa, additional, Tenney, Jessica, additional, Gao, Josephine, additional, Shear, Matthew A., additional, Moore, Anthony T., additional, Duncan, Jacque L., additional, Menendez, Beatriz, additional, Hull, Sarah, additional, Vincent, Andrea, additional, Siskind, Carly E., additional, Traboulsi, Elias I., additional, Blackstone, Craig, additional, Sisk, Robert, additional, Utz, Virginia, additional, Webster, Andrew R., additional, Michaelides, Michel, additional, Arno, Gavin, additional, Synofzik, Matthis, additional, and Hufnagel, Robert B, additional

Published
2023
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26. Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study

Author

Yonekawa, Yoshihiro, Wu, Wei-Chi, Kusaka, Shunji, Robinson, Joshua, Tsujioka, Daishi, Kang, Kai B., Shapiro, Michael J., Padhi, Tapas R., Jain, Lubhani, Sears, Jonathan E., Kuriyan, Ajay E., Berrocal, Audina M., Quiram, Polly A., Gerber, Amanda E., Paul Chan, R.V., Jonas, Karyn E., Wong, Sui Chien, Patel, C.K., Abbey, Ashkan M., Spencer, Rand, Blair, Michael P., Chang, Emmanuel Y., Papakostas, Thanos D., Vavvas, Demetrios G., Sisk, Robert A., Ferrone, Philip J., Henderson, Robert H., Olsen, Karl R., Hartnett, M. Elizabeth, Chau, Felix Y., Mukai, Shizuo, Murray, Timothy G., Thomas, Benjamin J., Meza, P. Anthony, Drenser, Kimberly A., Trese, Michael T., and Capone, Antonio, Jr.

Published
2016
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27. Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

Author

Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A., Sergeev, Yuri, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J., Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H., Taylor, John, Downes, Susan, Krawczynski, Maciej, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A., Moore, Anthony T., Duncan, Jacque L., Menendez, Beatriz, Hull, Sarah, Vincent, Andrea, Siskind, Carly E., Traboulsi, Elias I., Blackstone, Craig, Sisk, Robert, Utz, Virginia, Webster, Andrew R., Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, and Hufnagel, Robert B

Subjects
Article
Abstract

Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies. PNPLA6 encodes Neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a clinical meta-analysis of a novel cohort of 23 new patients along with 95 reported individuals with PNPLA6 variants that implicate missense variants as a driver of disease pathogenesis. Measuring esterase activity of 46 disease-associated and 20 common variants observed across PNPLA6 -associated clinical diagnoses unambiguously reclassified 10 variants as likely pathogenic and 36 variants as pathogenic, establishing a robust functional assay for classifying PNPLA6 variants of unknown significance. Estimating the overall NTE activity of affected individuals revealed a striking inverse relationship between NTE activity and the presence of retinopathy and endocrinopathy. This phenomenon was recaptured in vivo in an allelic mouse series, where a similar NTE threshold for retinopathy exists. Thus, PNPLA6 disorders, previously considered allelic, are a continuous spectrum of pleiotropic phenotypes defined by an NTE genotype:activity:phenotype relationship. This relationship and the generation of a preclinical animal model pave the way for therapeutic trials, using NTE as a biomarker.

Published
2023

28. Reply

Author

Sisk, Robert A., Rusia, Deepam, Zamora, Brian G., Kuley, Alex, and Toussaint, Brian W.

Published
2019
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32. Comparative Effectiveness of the Dexamethasone Intravitreal Implant in Vitrectomized and Non-vitrectomized Eyes With Macular Edema Secondary to Central Retinal Vein Occlusion

Author

Shaikh, Adeel H., Petersen, Michael R., Sisk, Robert A., Foster, Robert E., Riemann, Christopher D., and Miller, Daniel M.

Abstract

BACKGROUND AND OBJECTIVE:To compare duration and efficacy of the dexamethasone (DEX) intravitreal implant in vitrectomized (pars plana vitrectomy [PPV] group) and non-vitrectomized eyes (control group) with macular edema related to central retinal vein occlusion (CRVO).PATIENTS AND METHODS:Eyes that received the DEX implant for CRVO related to macular edema were included in a retrospective chart review. Outcomes measured were best-corrected visual acuity (BCVA) and central macular thickness (CMT)RESULTS:Fifteen eyes were included in the study. Eight of 15 eyes had prior vitrectomy. Mean BCVA was 20/160 in both groups. Baseline mean CMT was 550 microns (PPV group) and 556 microns (control group, Fifteen eyes were included in the study. Eight of 15 eyes had prior vitrectomy. Mean BCVA was 20/160 in both groups. Baseline mean CMT was 550 microns (PPV group) and 556 microns (control group, P= .70), and improved to 307.5 microns (PPV group) and 316.3 microns (control group) (P= .90) after implant. The BCVA was 20/125 (PPV group) and 20/200 (control group) (P= .60). Time to next procedure was similar in both groups.CONCLUSIONS:This retrospective study shows similar CMT reductions with DEX implant treatment for CRVO-related macular edema in vitrectomized and non-vitrectomized eyes.

Published
2024
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36. INTRAVITREAL DEXAMETHASONE IMPLANT IN RETINITIS PIGMENTOSA–RELATED CYSTOID MACULAR EDEMA

Author

Mansour, Ahmad M., Sheheitli, Huda, Kucukerdonmez, Cem, Sisk, Robert A., Moura, Raphael, Moschos, Marilita M., Lima, Luiz H., Al-Shaar, Laila, Arevalo, J. Fernando, Maia, Mauricio, Foster, Robert E., Kayikcioglu, Ozcan, Kozak, Igor, Kurup, Shree, Zegarra, Hernando, Gallego-Pinazo, Roberto, Hamam, Rola N., Bejjani, Riad A., Cinar, Esat, Erakgün, Ethem T., Kimura, Alan, and Teixeira, Anderson

Published
2018
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45. Efficacy, durability, and safety of intravitreal faricimab up to every 16 weeks for neovascular age-related macular degeneration (TENAYA and LUCERNE): two randomised, double-masked, phase 3, non-inferiority trials

Author

Heier, Jeffrey S, primary, Khanani, Arshad M, additional, Quezada Ruiz, Carlos, additional, Basu, Karen, additional, Ferrone, Philip J, additional, Brittain, Christopher, additional, Figueroa, Marta S, additional, Lin, Hugh, additional, Holz, Frank G, additional, Patel, Vaibhavi, additional, Lai, Timothy Y Y, additional, Silverman, David, additional, Regillo, Carl, additional, Swaminathan, Balakumar, additional, Viola, Francesco, additional, Cheung, Chui Ming Gemmy, additional, Wong, Tien Y, additional, Abbey, Ashkan, additional, Abdulaeva, Elmira, additional, Abraham, Prema, additional, Adan Civera, Alfredo, additional, Agostini, Hansjurgen, additional, Alezzandrini, Arturo, additional, Alfaro, Virgil, additional, Almony, Arghavan, additional, Altay, Lebriz, additional, Amini, Payam, additional, Antoszyk, Andrew, additional, Aradi, Etelka, additional, Arias, Luis, additional, Arnold, Jennifer, additional, Asaria, Riaz, additional, Astakhov, Sergei, additional, Astakhov, Yury, additional, Awh, Carl C., additional, Balaratnasingam, Chandra, additional, Banerjee, Sanjiv, additional, Baumal, Caroline, additional, Becker, Matthias, additional, Belfort, Rubens, additional, Bratko, Galina, additional, Bridges, William Jr. Z, additional, Brown, Jamin, additional, Brown, David M., additional, Budzinskaya, Maria, additional, Buffet, Sylvia, additional, Burgess, Stuart, additional, Byon, Iksoo, additional, Cagini, Carlo, additional, Calzada, Jorge, additional, Cameron, Stone, additional, Campochiaro, Peter, additional, Carlson, John, additional, Carneiro, Angela, additional, Chan, Clement, additional, Chang, Emmanuel, additional, Chang, Andrew, additional, Chao, Daniel, additional, Chaudhry, Nauman, additional, Chee, Caroline, additional, Cheek, Andrew, additional, Chen, Shih-Jen, additional, Chen, San-Ni, additional, Cheung, Gemmy, additional, Chexal, Saradha, additional, Chittum, Mark, additional, Chow, David, additional, Cole, Abosede, additional, Connolly, Brian, additional, Cornut, Pierre Loic, additional, Couvillion, Stephen, additional, Danzig, Carl, additional, Daskalov, Vesselin, additional, Dessouki, Amr, additional, Devin, Francois, additional, Dollin, Michael, additional, Dolz, Rosa, additional, Downey, Louise, additional, Dreyer, Richard, additional, Dugel, Pravin, additional, Eichenbaum, David, additional, Eldem, Bora, additional, Engstrom, Robert, additional, Escobar, Joan Josep, additional, Eter, Nicole, additional, Faber, David W., additional, Falk, Naomi, additional, Feiner, Leonard, additional, Fernandez Vega, Alvaro, additional, Ferrone, Philip, additional, Figueroa, Marta, additional, Fine, Howard, additional, Fineman, Mitchell, additional, Fox, Gregory M., additional, Francais, Catherine, additional, Franco, Pablo, additional, Fraser-Bell, Samantha, additional, Fung, Nicholas, additional, Furno Sola, Federico, additional, Gale, Richard, additional, Garcia-Layana, Alfredo, additional, Gasperini, Julie, additional, Gawecki, Maciej, additional, Ghanchi, Faruque, additional, Gill, Manjot, additional, Giunta, Michel, additional, Glaser, David, additional, Goldstein, Michaella, additional, Gomez Ulla, Francisco, additional, Gomi, Fumi, additional, Gonzalez, Victor, additional, Graff, Jordan, additional, Gupta, Sunil, additional, Guthoff, Rainer, additional, Guymer, Robyn, additional, Haas, Anton, additional, Hampton, Robert, additional, Hatz, Katja, additional, Hayashi, Ken, additional, Heier, Jeffrey, additional, Herba, Ewa, additional, Hershberger, Vrinda, additional, Higgins, Patrick, additional, Holekamp, Nancy, additional, Honda, Shigeru, additional, Howard, James, additional, Hu, Allen, additional, Huddleston, Stephen, additional, Iida, Tomohiro, additional, Imaizumi, Hiroko, additional, Ito, Yasuo, additional, Ito, Yasuki, additional, Itty, Sujit, additional, Javey, Golnaz, additional, Javid, Cameron, additional, Kaga, Tatsushi, additional, Kaluzny, Jakub, additional, Kang, Se Woong, additional, Kapoor, Kapil, additional, Karabas, Levent, additional, Kawasaki, Tsutomu, additional, Kelty, Patrick, additional, Kerenyi, Agnes, additional, Khanani, Arshad, additional, Khoramnia, Ramin, additional, Khurana, Rahul, additional, Kimura, Kazuhiro, additional, Klein-Mascia, Kendra, additional, Kobayashi, Namie, additional, Kodjikian, Laurent, additional, Koizumi, Hideki, additional, Kokame, Gregg, additional, Kulikov, Alexey, additional, Kwong, Henry, additional, Kwun, Robert, additional, Lai, Timothy, additional, Lai, Chi-Chun, additional, Lalonde, Laurent, additional, Lanzetta, Paolo, additional, Larsen, Michael, additional, Lavina, Adrian, additional, Lee, Won Ki, additional, Lee, ji Eun, additional, Lee, Seong, additional, Levy, Jaime, additional, Lindsell, Lucas, additional, Liu, Mimi, additional, London, Nikolas, additional, Lotery, Andrew, additional, Lozano Rechy, David, additional, Luckie, Alan, additional, Maberley, David, additional, Maeno, Takatoshi, additional, Mahmood, Sajjad, additional, Makkouk, Fuad, additional, Marcus, Dennis, additional, Margherio, Alan, additional, Masse, Helene, additional, Matsubara, Hisashi, additional, Maturi, Raj, additional, Mehta, Sonia, additional, Menon, Geeta, additional, Mentes, Jale, additional, Michels, Mark, additional, Mitamura, Yoshinori, additional, Mitchell, Paul, additional, Mohamed, Quresh, additional, Mones, Jordi, additional, Montemayor Lobo, Rodrigo, additional, Montero, Javier, additional, Moore, Jeffrey, additional, Mori, Ryusaburo, additional, Morori-Katz, Haia, additional, Mukherjee, Raj, additional, Murata, Toshinori, additional, Muzyka-Wozniak, Maria, additional, Nardi, Marco, additional, Narendran, Niro, additional, Nicolo, Massimo, additional, Nielsen, Jared, additional, Nishimura, Tetsuya, additional, Noda, Kousuke, additional, Nowinska, Anna, additional, Oh, Hideyasu, additional, Ohr, Matthew, additional, Okada, Annabelle, additional, Oleksy, Piotr, additional, Ono, Shinji, additional, Ozdek, Sengul, additional, Ozturk, Banu, additional, Pablo, Luis, additional, Park, Kyu Hyung, additional, Parke, D. Wilki, additional, Parravano, Maria Cristina, additional, Patel, Praveen, additional, Patel, Apurva, additional, Patel, Sunil, additional, Patel, Sugat, additional, Pauleikhoff, Daniel, additional, Pearce, Ian, additional, Pearlman, Joel, additional, Petkova, Iva, additional, Pieramici, Dante, additional, Pozdeyeva, Nadezhda, additional, Qureshi, Jawad, additional, Raczynska, Dorota, additional, Ramirez Estudillo, Juan, additional, Rathod, Rajiv, additional, Razavi, Hessam, additional, Reilly, Gayatri, additional, Ricci, Federico, additional, Rich, Ryan, additional, Romanowska-Dixon, Bożena, additional, Rosenblatt, Irit, additional, Ruiz Moreno, Jose Maria, additional, Sacu, Stefan, additional, Saedon, Habiba, additional, Saeed, Usman, additional, Sagong, Min, additional, Sakamoto, Taiji, additional, Sandhu, Sukhpal, additional, Sararols, Laura, additional, Saravia, Mario, additional, Schadlu, Ramin, additional, Schlottmann, Patricio, additional, Sekiryu, Tetsuju, additional, Seres, András, additional, Sermet, Figen, additional, Shah, Sumit, additional, Shah, Rohan, additional, Shah, Ankur, additional, Sheidow, Thomas, additional, Sheth, Veeral, additional, Shiragami, Chieko, additional, Sikorski, Bartosz, additional, Silva, Rufino, additional, Singerman, Lawrence, additional, Sisk, Robert, additional, Sørensen, Torben L., additional, Souied, Eric, additional, Spinak, David-J, additional, Staurenghi, Giovanni, additional, Steinmetz, Robert, additional, Stoller, Glenn, additional, Stoltz, Robert, additional, Suan, Eric, additional, Suner, Ivan, additional, Suzanne, Yzer, additional, Tadayoni, Ramin, additional, Takahashi, Kanji, additional, Takayama, Kei, additional, Taleb, Alexandre, additional, Talks, James, additional, Terasaki, Hiroko, additional, Thompson, John, additional, Toth-Molnar, Edit, additional, Tran, Khoi, additional, Tuli, Raman, additional, Uchiyama, Eduardo, additional, Vajas, Attila, additional, Van Lith-Verhoeven, Janneke, additional, Varsanyi, Balazs, additional, Virgili, Gianni, additional, Vogt, Gábor, additional, Völker, Michael, additional, Warrow, David, additional, Weber, Pamela, additional, Wells, John A., additional, Wickremasinghe, Sanjeewa, additional, Wieland, Mark, additional, Williams, Geoff, additional, Williams, Thomas, additional, Wong, David, additional, Wong, King, additional, Wong, James, additional, Wong, Ian, additional, Wong, Robert, additional, Wowra, Bogumil, additional, Wykoff, Charles C., additional, Yamashita, Ayana, additional, Yasuda, Kanako, additional, Yilmaz, Gursel, additional, Yiu, Glenn, additional, Yoneda, Ai, additional, Yoon, Young Hee, additional, Yoreh, Barak, additional, Yu, HyeongGon, additional, Yu, Seung Young, additional, Yurieva, Tatiana, additional, Zambrano, Alberto, additional, Zatorska, Barbara, additional, and Zeolite, Carlos, additional

Published
2022
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46. Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

Author

Miraldi Utz, Virginia, Ebert, Jared J., Brightman, Diana S., Simpson, Brittany N., Benoit, Stefanie, and Sisk, Robert A.

Subjects
BLINDNESS, GENETIC variation, FLUORESCENCE angiography, GENETIC counseling, GENETIC testing, DYSTROPHY, PHENOTYPES
Abstract

To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR). A 6-month-old Caucasian infant presented with poor visual response, high hypermetropia, and infantile-nystagmus with a provisional diagnosis of Leber Congenital Amaurosis based on clinical findings. Genetic counseling and testing were performed with a 285 gene retinal dystrophy panel (Blueprint Genetics). Clinical characteristics, presentation, ancillary testing results, and management are described. Two previously reported heterozygous pathogenic variants in ICQB1 were identified (c.1518_1519del (p.His506Glnfs*13) and c.1381C>T, p.Arg461*) segregating in trans. In addition, a variation of uncertain significance (VUS) was found in NDP (c.280C>T; p.His94Tyr). Fluorescein angiography was performed demonstrating peripheral avascularity and retinal telangiectasia without frank neovascularization. Peripheral ablative laser was applied to the avascular zone. The NDP VUS likely represents a pathogenic variant given the FEVR phenotype in addition to retinal degeneration, creating a rare dual phenotype. The combination of low oxygen demand from the IQCB1-associated retinal degeneration and NDP variant may have led to a more attenuated FEVR presentation with uncertain prognosis. A molecular diagnosis informed ocular and renal surveillance, as well as the recurrence risk for future offspring. [ABSTRACT FROM AUTHOR]

Published
2023
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50. Combined phacoemulsification and sutureless 23-gauge pars plana vitrectomy for complex vitreoretinal diseases

Author

Sisk, Robert A. and Murray, Timothy G.

Subjects
Cataract -- Care and treatment, Cataract -- Patient outcomes, Cataract -- Research, Retinal diseases -- Care and treatment, Retinal diseases -- Patient outcomes, Retinal diseases -- Research, Phacoemulsification -- Methods, Phacoemulsification -- Patient outcomes, Phacoemulsification -- Research, Vitrectomy -- Methods, Vitrectomy -- Patient outcomes, Vitrectomy -- Research, Health
Published
2010

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