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113 results on '"Michaelides A"'

1. Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa

Author

MICHAELIDES, MICHEL, BESIRLI, CAGRI G., YANG, YESA, DE GUIMARAES, THALES A.C., WONG, SUI CHIEN, HUCKFELDT, RACHEL M., COMANDER, JASON I., SAHEL, JOSÉ-ALAIN, SHAH, SYED MAHMOOD, TEE, JAMES J.L., KUMARAN, NERUBAN, GEORGIADIS, ANASTASIOS, MINNICK, PANSY, ZELDIN, ROBERT, NAYLOR, STUART, XU, JIALIN, CLARK, MICHAEL, ANGLADE, EDDY, WONG, PEGGY, FLECK, PENNY R., FUNG, ALBERT, PELUSO, COLLEEN, KALITZEOS, ANGELOS, GEORGIOU, MICHALIS, RIPAMONTI, CATERINA, SMITH, ALEXANDER J., ALI, ROBIN R., FORBES, ALEXANDRIA, and BAINBRIDGE, JAMES

Published
2024
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9. IMPG2-Related Maculopathy

Author

Birtel, Johannes, Caswell, Richard, De Silva, Samantha R., Herrmann, Philipp, Rehman, Salwah, Lotery, Andrew J., Mahroo, Omar A., Michaelides, Michel, Webster, Andrew R., MacLaren, Robert E., and Charbel Issa, Peter

Published
2024
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12. First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia

Author

Michaelides, Michel, Hirji, Nashila, Wong, Sui Chien, Besirli, Cagri G., Zaman, Serena, Kumaran, Neruban, Georgiadis, Anastasios, Smith, Alexander J., Ripamonti, Caterina, Gottlob, Irene, Robson, Anthony G., Thiadens, Alberta, Henderson, Robert H., Fleck, Penny, Anglade, Eddy, Dong, Xiangwen, Capuano, George, Lu, Wentao, Berry, Pamela, Kane, Thomas, Naylor, Stuart, Georgiou, Michalis, Kalitzeos, Angelos, Ali, Robin R., Forbes, Alexandria, and Bainbridge, James

Published
2023
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17. Baseline Microperimetry and OCT in the RUSH2A Study: Structure−Function Association and Correlation With Disease Severity

Author

Lad, Eleonora M., Duncan, Jacque L., Liang, Wendi, Maguire, Maureen G., Ayala, Allison R., Audo, Isabelle, Birch, David G., Carroll, Joseph, Cheetham, Janet K., Durham, Todd A., Fahim, Abigail T., Loo, Jessica, Deng, Zengtian, Mukherjee, Dibyendu, Heon, Elise, Hufnagel, Robert B., Guan, Bin, Iannaccone, Alessandro, Jaffe, Glenn J., Kay, Christine N., Michaelides, Michel, Pennesi, Mark E., Vincent, Ajoy, Weng, Christina Y., and Farsiu, Sina

Published
2022
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18. WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

Author

Majander, Anna, Jurkute, Neringa, Burté, Florence, Brock, Kristian, João, Catarina, Huang, Houbin, Neveu, Magella M., Chan, Choi Mun, Duncan, Holly J., Kelly, Simon, Burkitt-Wright, Emma, Khoyratty, Fadil, Lai, Yoon Tse, Subash, Mala, Chinnery, Patrick F., Bitner-Glindzicz, Maria, Arno, Gavin, Webster, Andrew R., Moore, Anthony T., Michaelides, Michel, Stockman, Andrew, Robson, Anthony G., and Yu-Wai-Man, Patrick

Published
2022
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19. Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2

Author

Kong, Xiangrong, Ibrahim-Ahmed, Mohamed, Bittencourt, Millena G., Strauss, Rupert W., Birch, David G., Cideciyan, Artur V., Ervin, Ann-Margaret, Ho, Alexander, Sunness, Janet S., Audo, Isabelle S., Michaelides, Michel, Zrenner, Eberhart, Sadda, SriniVas, Ip, Michael S., West, Sheila, and Scholl, Hendrik P.N.

Published
2022
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21. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

Author

Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, and Michaelides, Michel

Published
2021
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22. KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

Author

Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, Leo, Shaun M., Vincent, Ajoy, Nasser, Fadi, Cabral De Guimarães, Thales Antônio, Khateb, Samer, Pontikos, Nikolas, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, Arno, Gavin, Mahroo, Omar A., Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Wissinger, Bernd, Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Khan, Arif O., Webster, Andrew R., Zrenner, Eberhart, Héon, Elise, and Michaelides, Michel

Published
2021
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24. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

Author

Duncan, Jacque L., Liang, Wendi, Maguire, Maureen G., Audo, Isabelle, Ayala, Allison R., Birch, David G., Carroll, Joseph, Cheetham, Janet K., Esposti, Simona Degli, Durham, Todd A., Erker, Laura, Farsiu, Sina, Ferris, Frederick L., III, Heon, Elise, Hufnagel, Robert B., Iannaccone, Alessandro, Jaffe, Glenn J., Kay, Christine N., Michaelides, Michel, Pennesi, Mark E., and Sahel, José-Alain

Published
2020
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25. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14

Author

Scholl, Hendrik P.N., Strauss, Rupert W., Wolfson, Yulia, Bittencourt, Millena, Shah, Syed Mahmood, Ahmed, Mohamed, Schönbach, Etienne, Fujinami, Kaoru, Traboulsi, Elias, Ehlers, Justis, Marino, Meghan, Crowe, Susan, Briggs, Rachael, Borer, Angela, Pinter, Anne, Fecko, Tami, Burgnoni, Nikki, Sunness, Janet S., Applegate, Carol, Russell, Leslie, Michaelides, Michel, Degli Esposti, Simona, Moore, Anthony, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Salchi, Zaid, Alfageme, Clara, McCudden, Victoria, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Robson, Anthony, King, Alexa, Cajas Narvaez, Daniela Ivanova, Barnard, Katy, Grigg, Catherine, Dunbar, Hannah, Obadeyi, Yetunde, Girard-Claudon, Karine, Swann, Hilary, Rughani, Avani, Amoah, Charles, Carrington, Dominic, Bibi, Kanom, Ting, Emerson, Illiyas, Mohamed Nafaz, Begum, Hamida, Carter, Andrew, Georgiou, Anne, Lewism, Selma, Shaheen, Saddaf, Shinmar, Harpreet, Burton, Linda, Bernstein, Paul, Wegner, Kimberley, Sawyer, Briana Lauren, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Jenkins, Glen, Creel, Donnel, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Locke, Kirsten, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V., Jacobson, Samuel G., Schwartz, Sharon B., Matsui, Rodrigo, Gruzensky, Michaela, Charng, Jason, Roman, Alejandro J., Zrenner, Eberhart, Nasser, Fadi, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Beier, Benjamin, Koenig, Tilman, Kramer, Susanne, Sahel, José-Alain, Mohand-Said, Saddek, Audo, Isabelle, Laurent-Coriat, Caroline, Sliesoraityte, Ieva, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Chaumette, Céline, Amaudruz, Juliette, Ganem, Victoria, Sancho, Serge, Girmens, Aurore, Wojciechowski, Robert, Khan, Shazia, Emmert, David G., Cain, Dennis, Herring, Mark, Bassinger, Jennifer, Liberto, Lisa, West, Sheila, Ervin, Ann-Margret, Munoz, Beatriz, Kong, Xiangrong, Dreger, Kurt, Jones, Jennifer, Sadda, Srinivas, Ip, Michael S., Jha, Anamika, Ho, Alex, Kramer, Brendan, Lam, Ngoc, Tawdros, Rita, Zhou, Yong Dong, Carmona, Johana, Uji, Akihito, Hariri, Amirhossein, Lock, Amy, Elshafei, Anthony, Ganegoda, Anushika, Petrossian, Christine, Jenkins, Dennis, Strnad, Edward, Baghdasaryan, Elmira, Ito, Eric, Samson, Feliz, Blanquel, Gloria, Akil, Handan, Melendez, Jhanisus, Lei, Jianqin, Huang, Jianyan, Chau, Jonathan, Falavarjani, Khalil G., Espino, Kristina, Li, Manfred, Mendoza, Maria, Nittala, Muneeswar Gupta, Roded, Netali, Saleh, Nizar, Huang, Ping, Pitetta, Sean, Balasubramanian, Siva, Leahy, Sophie, Srinivas, Sowmya J., Velaga, Swetha B., Margaryan, Teresa, Tepelus, Tudor, Brown, Tyler, Fan, Wenying, Murillo, Yamileth, Shi, Yue, Aguilar, Katherine, Chan, Cynthia, Santos, Lisa, Seo, Brian, Sison, Christopher, Perez, Silvia, Chao, Stephanie, Miyasato, Kelly, Higgins, Julia, Luna, Zoila, Menchaca, Anita, Gonzalez, Norma, Robledo, Vicky, Carig, Karen, Baker, Kirstie, Ellenbogen, David, Bluemel, Daniel, Sanford, Theo, Linares, Daisy, Tran, Mei, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Kim, Monica, Mendiguren, Carolina, Huang, Xiwen, Smith, Monika, Sarreal, Natalie, Schönbach, Etienne M., Ibrahim, Mohamed A., Janes, Jessica L., Birch, David G., Muñoz, Beatriz, and Sadda, SriniVas R.

Published
2020
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30. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12

Author

Scholl, Hendrik P.N., Strauss, Rupert W., Wolfson, Yulia, Bittencourt, Millena, Shah, Syed Mahmood, Ahmed, Mohamed, Schönbach, Etienne, Fujinami, Kaoru, Traboulsi, Elias, Ehlers, Justis, Marino, Meghan, Crowe, Susan, Briggs, Rachael, Borer, Angela, Pinter, Anne, Fecko, Tami, Burgnoni, Nikki, Sunness, Janet S., Applegate, Carol, Russell, Leslie, Michaelides, Michel, Esposti, Simona Degli, Moore, Anthony, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Salchi, Zaid, Alfageme, Clara, McCudden, Victoria, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Robson, Anthony, King, Alexa, Narvaez, Daniela Ivanova Cajas, Barnard, Katy, Grigg, Catherine, Dunbar, Hannah, Obadeyi, Yetunde, Girard-Claudon, Karine, Swann, Hilary, Rughani, Avani, Amoah, Charles, Carrington, Dominic, Bibi, Kanom, Co, Emerson Ting, Illiyas, Mohamed Nafaz, Begum, Hamida, Carter, Andrew, Georgiou, Anne, Lewism, Selma, Shaheen, Saddaf, Shinmar, Harpreet, Burton, Linda, Bernstein, Paul, Wegner, Kimberley, Sawyer, Briana Lauren, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Jenkins, Glen, Creel, Donnel, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Locke, Kirsten, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V., Jacobson, Samuel G., Schwartz, Sharon B., Matsui, Rodrigo, Gruzensky, Michaela, Charng, Jason, Roman, Alejandro J., Zrenner, Eberhart, Nasser, Fadi, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Beier, Benjamin, Koenig, Tilman, Kramer, Susanne, Sahel, José-Alain, Mohand-Said, Saddek, Audo, Isabelle, Laurent-Coriat, Caroline, Sliesoraityte, Ieva, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Chaumette, Céline, Amaudruz, Juliette, Ganem, Victoria, Sancho, Serge, Girmens, Aurore, Wojciechowski, Robert, Khan, Shazia, Emmert, David G., Cain, Dennis, Herring, Mark, Bassinger, Jennifer, Liberto, Lisa, West, Sheila, Ervin, Ann-Margret, Munoz, Beatriz, Kong, Xiangrong, Dreger, Kurt, Jones, Jennifer, Sadda, Srinivas, Ip, Michael S., Jha, Anamika, Ho, Alex, Kramer, Brendan, Lam, Ngoc, Tawdros, Rita, Zhou, Yong Dong, Carmona, Johana, Uji, Akihito, Hariri, Amirhossein, Lock, Amy, Elshafei, Anthony, Ganegoda, Anushika, Petrossian, Christine, Jenkins, Dennis, Strnad, Edward, Baghdasaryan, Elmira, Ito, Eric, Samson, Feliz, Blanquel, Gloria, Akil, Handan, Melendez, Jhanisus, Lei, Jianqin, Huang, Jianyan, Chau, Jonathan, Falavarjani, Khalil G., Espino, Kristina, Li, Manfred, Mendoza, Maria, Nittala, Muneeswar Gupta, Roded, Netali, Saleh, Nizar, Huang, Ping, Pitetta, Sean, Balasubramanian, Siva, Leahy, Sophie, Srinivas, Sowmya J., Velaga, Swetha B., Margaryan, Teresa, Tepelus, Tudor, Brown, Tyler, Fan, Wenying, Murillo, Yamileth, Shi, Yue, Aguilar, Katherine, Chan, Cynthia, Santos, Lisa, Seo, Brian, Sison, Christopher, Perez, Silvia, Chao, Stephanie, Miyasato, Kelly, Higgins, Julia, Luna, Zoila, Menchaca, Anita, Gonzalez, Norma, Robledo, Vicky, Carig, Karen, Baker, Kirstie, Ellenbogen, David, Bluemel, Daniel, Sanford, Theo, Linares, Daisy, Tran, Mei, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Kim, Monica, Mendiguren, Carolina, Huang, Xiwen, Smith, Monika, Sarreal, Natalie, Schönbach, Etienne M., Muñoz, Beatriz, Ibrahim, Mohamed A., Birch, David G., Hahn, Gesa-Astrid, Sadda, SriniVas R., and West, Sheila K.

Published
2018
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32. Assessing Retinal Structure in Complete Congenital Stationary Night Blindness and Oguchi Disease

Author

Godara, Pooja, Cooper, Robert F, Sergouniotis, Panagiotis I, Diederichs, Melissa A, Streb, Megan R, Genead, Mohamed A, McAnany, J Jason, Webster, Andrew R, Moore, Anthony T, Dubis, Adam M, Neitz, Maureen, Dubra, Alfredo, Stone, Edwin M, Fishman, Gerald A, Han, Dennis P, Michaelides, Michel, and Carroll, Joseph

Subjects
Neurosciences, Eye Disease and Disorders of Vision, Eye, Adolescent, Adult, Dark Adaptation, Eye Diseases, Hereditary, Female, G-Protein-Coupled Receptor Kinase 1, Genetic Diseases, X-Linked, Humans, Male, Middle Aged, Mutation, Myopia, Night Blindness, Ophthalmoscopy, Photoreceptor Cells, Vertebrate, Polymerase Chain Reaction, Prospective Studies, Receptors, Glutamate, Retinal Bipolar Cells, Retinal Ganglion Cells, Tomography, Optical Coherence, Vision, Ocular, Visual Acuity, Young Adult, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry
Abstract

PurposeTo examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease.DesignProspective, observational case series.MethodsWe recruited 3 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers with Oguchi disease caused by mutations in GRK1, and 1 normal control. Retinal thickness was measured from optical coherence tomography images. Integrity of the rod and cone mosaic was assessed using adaptive optics scanning light ophthalmoscopy. We imaged 5 of the patients after a period of dark adaptation and examined layer reflectivity on optical coherence tomography in a patient with Oguchi disease under light- and dark-adapted conditions.ResultsRetinal thickness was reduced in the parafoveal region in patients with GRM6 mutations as a result of decreased thickness of the inner retinal layers. All patients had normal photoreceptor density at all locations analyzed. On removal from dark adaptation, the intensity of the rods (but not cones) in the patients with Oguchi disease gradually and significantly increased. In 1 Oguchi disease patient, the outer segment layer contrast on optical coherence tomography was 4-fold higher under dark-adapted versus light-adapted conditions.ConclusionsThe selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina. Our finding that rods, but not cones, change intensity after dark adaptation suggests that fundus changes in Oguchi disease are the result of changes within the rods as opposed to changes at a different retinal locus.

Published
2012

33. RBP3-retinopathy - inherited high myopia and retinal dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping

Author

Georgiou, Michalis, primary, Fujinami, Kaoru, additional, Robson, Anthony G., additional, Fujinami-Yokokawa, Yu, additional, Shakarchi, Ahmed F., additional, Ji, Marco H., additional, Uwaydat, Sami H., additional, Kim, Angela, additional, Kolesnikova, Masha, additional, Arno, Gavin, additional, Pontikos, Nikolas, additional, Mahroo, Omar A., additional, Tsang, Stephen H., additional, Webster, Andrew R., additional, and Michaelides, Michel, additional

Published
2023
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39. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

Author

Kazushige Tsunoda, Camiel J. F. Boon, Ester Carreño, Xiao Liu, Rachel M. Huckfeldt, Mark E. Pennesi, Andrew R. Webster, Anthony G. Robson, Elise Héon, Gavin Arno, Susanne Kohl, Belen Jimenez-Rolando, Michel Michaelides, Carmen Ayuso, Omar A. Mahroo, Eyal Banin, Samer Khateb, Takaaki Hayashi, Bernd Wissinger, Arif O. Khan, Eberhart Zrenner, Alberta A H J Thiadens, Ajoy Vincent, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Thales Antonio Cabral de Guimaraes, Xuan-Thanh-An Nguyen, Michalis Georgiou, Almudena Avila-Fernandez, Mauricio E Vargas, Emanuel R. de Carvalho, Shaun Michael Leo, Yu Fujinami-Yokokawa, Dror Sharon, Fadi Nasser, Kaoru Fujinami, Blanca Garcia-Sandoval, Ophthalmology, and ANS - Complex Trait Genetics

Subjects
medicine.medical_specialty, genetic structures, Fundus Oculi, Retina, Foveola, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Retinal Diseases, Optical coherence tomography, Ophthalmology, medicine, Humans, Fluorescein Angiography, Outer nuclear layer, Retrospective Studies, 030304 developmental biology, 0303 health sciences, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, Retinal, medicine.disease, eye diseases, Autofluorescence, Phenotype, medicine.anatomical_structure, chemistry, Potassium Channels, Voltage-Gated, 030221 ophthalmology & optometry, Original Article, sense organs, business, Tomography, Optical Coherence, Retinopathy
Abstract

Highlights • KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes. • Disease course can be unpredictable and may severely affect children and young adults. • Findings suggest a potential window for intervention until 40 years of age, albeit with variability between patients due to macular atrophy., Purpose To describe the detailed retinal phenotype of KCNV2-associated retinopathy. Study design Multicenter international retrospective case series. Methods Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses. Results Three distinct macular FAF features were identified: (1) centrally increased signal (n = 35, 41.7%), (2) decreased autofluorescence (n = 27, 31.1%), and (3) ring of increased signal (n = 37, 44.0%). Five distinct FAF groups were identified based on combinations of those features, with 23.5% of patients changing the FAF group over a mean (range) follow-up of 5.9 years (1.9-13.1 years). Qualitative assessment was performed by grading OCT into 5 grades: (1) continuous ellipsoid zone (EZ) (20.5%); (2) EZ disruption (26.1%); (3) EZ absence, without optical gap and with preserved retinal pigment epithelium complex (21.6%); (4) loss of EZ and a hyporeflective zone at the foveola (6.8%); and (5) outer retina and retinal pigment epithelium complex loss (25.0%). Eighty-six patients had scans available from both eyes, with 83 (96.5%) having the same grade in both eyes, and 36.1% changed OCT grade over a mean follow-up of 5.5 years. The annual rate of outer nuclear layer thickness change was similar for right and left eyes. Conclusions KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes. The identification of a single OCT or FAF measurement as an endpoint to determine progression that applies to all patients may be challenging, although outer nuclear layer thickness is a potential biomarker. Findings suggest a potential window for intervention until 40 years of age.

Published
2021

40. KCNV2-Associated Retinopathy

Author

Bernd Wissinger, Eberhart Zrenner, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Xuan-Thanh-An Nguyen, Anthony G. Robson, Emanuel R. de Carvalho, Kazushige Tsunoda, Omar A. Mahroo, Alberta A H J Thiadens, Mauricio E Vargas, Fadi Nasser, Kaoru Fujinami, Gavin Arno, Rachel M. Huckfeldt, Ester Carreño, Thales Antonio Cabral de Guimaraes, Ayuso Carmen, Takaaki Hayashi, Michel Michaelides, Elise Héon, Xiao Liu, Dror Sharon, Ajoy Vincent, Mark E. Pennesi, Michalis Georgiou, Arif O. Khan, Andrew R. Webster, Yu Fujinami-Yokokawa, Gema Gordo, Eyal Banin, Shaun Michael Leo, Susanne Kohl, Belen Jimenez-Rolando, Camiel J. F. Boon, Samer Khateb, Ophthalmology, and ANS - Complex Trait Genetics

Subjects
Male, Visual acuity, Photophobia, genetic structures, Visual Acuity, 0302 clinical medicine, Child, Genetics, 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, Potassium Channels, Voltage-Gated, Child, Preschool, Decreased Visual Acuity, Cohort, Female, Original Article, medicine.symptom, Erg, Retinitis Pigmentosa, Tomography, Optical Coherence, Retinopathy, Adult, Adolescent, Vision Disorders, Dark Adaptation, Refraction, Ocular, Nyctalopia, Retina, 03 medical and health sciences, Exome Sequencing, medicine, Electroretinography, Humans, Molecular Biology, Alleles, 030304 developmental biology, Aged, Retrospective Studies, Whole Genome Sequencing, business.industry, Infant, Newborn, Infant, medicine.disease, eye diseases, Ophthalmology, 030221 ophthalmology & optometry, business
Abstract

Purpose To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. Study design This was a multicenter international clinical cohort study. Methods Review of clinical notes and molecular genetic testing. Full-field electroretinography (ERG) recordings, incorporating the international standards, were reviewed and quantified and compared with age and recordings from control subjects. Results In total, 230 disease-associated alleles were identified from 117 patients, corresponding to 75 different KCNV2 variants, with 28 being novel. The mean age of onset was 3.9 years old. All patients were symptomatic before 12 years of age (range, 0-11 years). Decreased visual acuity was present in all patients, and 4 other symptoms were common: reduced color vision (78.6%), photophobia (53.5%), nyctalopia (43.6%), and nystagmus (38.6%). After a mean follow-up of 8.4 years, the mean best-corrected visual acuity (BCVA ± SD) decreased from 0.81 ± 0.27 to 0.90 ± 0.31 logarithm of minimal angle of resolution. Full-field ERGs showed pathognomonic waveform features. Quantitative assessment revealed a wide range of ERG amplitudes and peak times, with a mean rate of age-associated reduction indistinguishable from the control group. Mean amplitude reductions for the dark-adapted 0.01 ERG, dark-adapted 10 ERG a-wave, and LA 3.0 30 Hz and LA3 ERG b-waves were 55%, 21%, 48%, and 74%, respectively compared with control values. Peak times showed stability across 6 decades. Conclusion In KCNV2-associated retinopathy, full-field ERGs are diagnostic and consistent with largely stable peripheral retinal dysfunction. Report 1 highlights the severity of the clinical phenotype and established a large cohort of patients, emphasizing the unmet need for trials of novel therapeutics., Highlights • The current study established the largest and most characterized cohort of molecularly confirmed patients with KCNV2-associated retinopathy. • Report 1 highlights the genetic background, evidence of electroretinography stability over a broad age range, and the severe phenotype of the disease.

Published
2021

43. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

Author

Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, and Michel Michaelides

Subjects
Ophthalmology
Abstract

To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.Multicenter international retrospective cohort study.Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) parameters, visual function, fundus characteristics, and associations between variables were the main outcome measures.The mean age of the cohort at the first visit was 19.8 ± 16.1 (median 15) years, with a mean follow-up of 9.6 ± 10 years. Based on history, imaging, and clinical examination, 26 individuals were diagnosed with retinitis pigmentosa (RP; 25%), 54 with early-onset severe retinal dystrophy / Leber congenital amaurosis (EOSRD/LCA; 52%), and 24 with macular dystrophy (MD; 23%). Severe visual impairment was most frequent after 40 years of age for patients with RP and after 20 years of age for EOSRD/LCA. Longitudinal analysis revealed a significant difference between baseline and follow-up best-corrected visual acuity in the 3 subcohorts. Macular thickness decreased in most patients with EOSRD/LCA and MD, whereas the majority of patients with RP had increased perifoveal thickness.A subset of individuals with CRB1 variants present with mild, adult-onset RP. EOSRD/LCA phenotype was significantly associated with null variants, and 167_169 deletion was exclusively present in the MD cohort. The poor OCT lamination may have a degenerative component, as well as being congenital. Disease symmetry and reasonable window for intervention highlight CRB1 retinal dystrophies as a promising target for trials of novel therapeutics.

Published
2022

44. Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy

Author

Michel Michaelides, James Tee, Evgenia Anikina, Richard G. Weleber, Andrew R. Webster, and Michalis Georgiou

Subjects
Adult, medicine.medical_specialty, Visual acuity, Intraclass correlation, Visual Acuity, Retina, Correlation, chemistry.chemical_compound, Retinal Diseases, Ophthalmology, Genes, Regulator, medicine, Humans, Child, Eye Proteins, business.industry, Reproducibility of Results, Retinal, Retinitis pigmentosa GTPase regulator, Repeatability, medicine.disease, Benchmarking, chemistry, Disease Progression, Visual Field Tests, medicine.symptom, Visual Fields, business, Microperimetry, Tomography, Optical Coherence, Retinopathy
Abstract

PURPOSE To investigate microperimetry testing of retinitis pigmentosa GTPase regulator gene (RPGR)-associated retinopathy in a cohort of children and adults. DESIGN Prospective observational case series. METHODS The coefficient of repeatability and intraclass correlation coefficient (ICC) of mean sensitivity (MS) were calculated for mesopic microperimetry. Best-corrected visual acuity (BCVA), contrast sensitivity (CS), MS, total volume (VTOT), and central 3-degree field volume (V3) from volumetric and topographic analyses were acquired. RESULTS The study recruited 76 individuals with RPGR (53 adults, 23 children). The mean follow-up period was 2.8 years. The ICC values for MS, VTOT, and V3 were 0.982 dB (95% CI, 0.969-0.989 dB), 0.970 dB-steradian (sr) (95% CI, -0.02658 to 0.03691 dB-sr), and 0.986 dB-sr (95% CI, 0.978-0.991), respectively. The r values for interocular MS, VTOT, and V3 were 0.97 (P < .01), 0.97 (P < .01), and 0.98 (P < .01), respectively, indicating strong interocular correlation. The interocular correlation of progression for MS, VTOT, and V3 was 0.81 (P < .01), 0.64 (P < .01), and 0.81 (P < .01), respectively. There was no statistically significant difference in the interocular progression rates for MS or VTOT. V3 did show a statistically significant difference. Most patients lost retinal sensitivity rapidly during their second and third decades of life. CONCLUSIONS The high degree of reproducibility of results and the good interocular correlation lends this method to accurately monitoring disease progression, as well as supporting validation of the use of MP in assessing the outcomes of gene therapy clinical treatment trials.

Published
2021

45. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

Author

Christine N. Kay, Laura R Erker, Todd Durham, Sina Farsiu, Wendi Liang, Glenn J. Jaffe, David G. Birch, Frederick L. Ferris, Michel Michaelides, Maureen G. Maguire, José-Alain Sahel, Isabelle Audo, Jacque L. Duncan, Mark E. Pennesi, Simona Degli Esposti, Elise Héon, Allison R Ayala, Joseph Carroll, Robert B. Hufnagel, Alessandro Iannaccone, and Janet K. Cheetham

Subjects
Adult, Male, medicine.medical_specialty, Visual acuity, genetic structures, Intraclass correlation, Cross-sectional study, Usher syndrome, Vision Disorders, Visual Acuity, Severity of Illness Index, Retina, Article, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, Severity of illness, Retinitis pigmentosa, medicine, Electroretinography, Humans, Longitudinal Studies, 030304 developmental biology, 0303 health sciences, Extracellular Matrix Proteins, business.industry, Middle Aged, medicine.disease, eye diseases, Visual field, Cross-Sectional Studies, Research Design, 030221 ophthalmology & optometry, Disease Progression, Population study, Visual Field Tests, Female, medicine.symptom, Visual Fields, business, Usher Syndromes, Retinitis Pigmentosa
Abstract

Purpose To report baseline visual fields in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) study. Design Cross-sectional study within a natural history study. Methods Setting: multicenter, international. Study population: Usher syndrome type 2 (USH2) (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) (n = 47) associated with biallelic disease-causing sequence variants in USH2A. Observation procedures: Repeatability of full-field static perimetry (SP) and between-eye symmetry of kinetic perimetry (KP) were evaluated with intraclass correlation coefficients (ICCs). The association of demographic and clinical characteristics with total hill of vision (VTOT) was assessed with general linear models. Associations between VTOT and other functional and morphologic measures were assessed using Spearman correlation coefficients and t tests. Main outcome measures: VTOT (SP) and III4e isopter area (KP). Results USH2 participants had more severe visual field loss than ARRP participants (P .48; P Conclusions USH2 participants had more visual field loss than participants with USH2A-related ARRP, adjusting for duration of disease and age of enrollment. VTOT was repeatable and correlated with other functional and structural metrics, suggesting it may be a good summary measure of disease severity in patients with USH2A-related retinal degeneration.

Published
2020

46. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14

Author

Schönbach, Etienne M., primary, Strauss, Rupert W., additional, Ibrahim, Mohamed A., additional, Janes, Jessica L., additional, Birch, David G., additional, Cideciyan, Artur V., additional, Sunness, Janet S., additional, Muñoz, Beatriz, additional, Ip, Michael S., additional, Sadda, SriniVas R., additional, Scholl, Hendrik P.N., additional, Wolfson, Yulia, additional, Bittencourt, Millena, additional, Shah, Syed Mahmood, additional, Ahmed, Mohamed, additional, Schönbach, Etienne, additional, Fujinami, Kaoru, additional, Traboulsi, Elias, additional, Ehlers, Justis, additional, Marino, Meghan, additional, Crowe, Susan, additional, Briggs, Rachael, additional, Borer, Angela, additional, Pinter, Anne, additional, Fecko, Tami, additional, Burgnoni, Nikki, additional, Applegate, Carol, additional, Russell, Leslie, additional, Michaelides, Michel, additional, Degli Esposti, Simona, additional, Moore, Anthony, additional, Webster, Andrew, additional, Connor, Sophie, additional, Barnfield, Jade, additional, Salchi, Zaid, additional, Alfageme, Clara, additional, McCudden, Victoria, additional, Pefkianaki, Maria, additional, Aboshiha, Jonathan, additional, Liew, Gerald, additional, Holder, Graham, additional, Robson, Anthony, additional, King, Alexa, additional, Cajas Narvaez, Daniela Ivanova, additional, Barnard, Katy, additional, Grigg, Catherine, additional, Dunbar, Hannah, additional, Obadeyi, Yetunde, additional, Girard-Claudon, Karine, additional, Swann, Hilary, additional, Rughani, Avani, additional, Amoah, Charles, additional, Carrington, Dominic, additional, Bibi, Kanom, additional, Ting, Emerson, additional, Illiyas, Mohamed Nafaz, additional, Begum, Hamida, additional, Carter, Andrew, additional, Georgiou, Anne, additional, Lewism, Selma, additional, Shaheen, Saddaf, additional, Shinmar, Harpreet, additional, Burton, Linda, additional, Bernstein, Paul, additional, Wegner, Kimberley, additional, Sawyer, Briana Lauren, additional, Carlstrom, Bonnie, additional, Farnsworth, Kellian, additional, Fry, Cyrie, additional, Chandler, Melissa, additional, Jenkins, Glen, additional, Creel, Donnel, additional, Birch, David, additional, Wang, Yi-Zhong, additional, Rodriguez, Luis, additional, Locke, Kirsten, additional, Klein, Martin, additional, Mejia, Paulina, additional, Jacobson, Samuel G., additional, Schwartz, Sharon B., additional, Matsui, Rodrigo, additional, Gruzensky, Michaela, additional, Charng, Jason, additional, Roman, Alejandro J., additional, Zrenner, Eberhart, additional, Nasser, Fadi, additional, Hahn, Gesa Astrid, additional, Wilhelm, Barbara, additional, Peters, Tobias, additional, Beier, Benjamin, additional, Koenig, Tilman, additional, Kramer, Susanne, additional, Sahel, José-Alain, additional, Mohand-Said, Saddek, additional, Audo, Isabelle, additional, Laurent-Coriat, Caroline, additional, Sliesoraityte, Ieva, additional, Zeitz, Christina, additional, Boyard, Fiona, additional, Tran, Minh Ha, additional, Chapon, Mathias, additional, Chaumette, Céline, additional, Amaudruz, Juliette, additional, Ganem, Victoria, additional, Sancho, Serge, additional, Girmens, Aurore, additional, Wojciechowski, Robert, additional, Khan, Shazia, additional, Emmert, David G., additional, Cain, Dennis, additional, Herring, Mark, additional, Bassinger, Jennifer, additional, Liberto, Lisa, additional, West, Sheila, additional, Ervin, Ann-Margret, additional, Munoz, Beatriz, additional, Kong, Xiangrong, additional, Dreger, Kurt, additional, Jones, Jennifer, additional, Sadda, Srinivas, additional, Jha, Anamika, additional, Ho, Alex, additional, Kramer, Brendan, additional, Lam, Ngoc, additional, Tawdros, Rita, additional, Zhou, Yong Dong, additional, Carmona, Johana, additional, Uji, Akihito, additional, Hariri, Amirhossein, additional, Lock, Amy, additional, Elshafei, Anthony, additional, Ganegoda, Anushika, additional, Petrossian, Christine, additional, Jenkins, Dennis, additional, Strnad, Edward, additional, Baghdasaryan, Elmira, additional, Ito, Eric, additional, Samson, Feliz, additional, Blanquel, Gloria, additional, Akil, Handan, additional, Melendez, Jhanisus, additional, Lei, Jianqin, additional, Huang, Jianyan, additional, Chau, Jonathan, additional, Falavarjani, Khalil G., additional, Espino, Kristina, additional, Li, Manfred, additional, Mendoza, Maria, additional, Nittala, Muneeswar Gupta, additional, Roded, Netali, additional, Saleh, Nizar, additional, Huang, Ping, additional, Pitetta, Sean, additional, Balasubramanian, Siva, additional, Leahy, Sophie, additional, Srinivas, Sowmya J., additional, Velaga, Swetha B., additional, Margaryan, Teresa, additional, Tepelus, Tudor, additional, Brown, Tyler, additional, Fan, Wenying, additional, Murillo, Yamileth, additional, Shi, Yue, additional, Aguilar, Katherine, additional, Chan, Cynthia, additional, Santos, Lisa, additional, Seo, Brian, additional, Sison, Christopher, additional, Perez, Silvia, additional, Chao, Stephanie, additional, Miyasato, Kelly, additional, Higgins, Julia, additional, Luna, Zoila, additional, Menchaca, Anita, additional, Gonzalez, Norma, additional, Robledo, Vicky, additional, Carig, Karen, additional, Baker, Kirstie, additional, Ellenbogen, David, additional, Bluemel, Daniel, additional, Sanford, Theo, additional, Linares, Daisy, additional, Tran, Mei, additional, Nava, Lorane, additional, Oberoi, Michelle, additional, Romero, Mark, additional, Chiguil, Vivian, additional, Bynum-Bain, Grantley, additional, Kim, Monica, additional, Mendiguren, Carolina, additional, Huang, Xiwen, additional, Smith, Monika, additional, and Sarreal, Natalie, additional

Published
2020
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47. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12

Author

Schönbach, Etienne M., primary, Strauss, Rupert W., additional, Kong, Xiangrong, additional, Muñoz, Beatriz, additional, Ibrahim, Mohamed A., additional, Sunness, Janet S., additional, Birch, David G., additional, Hahn, Gesa-Astrid, additional, Nasser, Fadi, additional, Zrenner, Eberhart, additional, Sadda, SriniVas R., additional, West, Sheila K., additional, Scholl, Hendrik P.N., additional, Wolfson, Yulia, additional, Bittencourt, Millena, additional, Shah, Syed Mahmood, additional, Ahmed, Mohamed, additional, Schönbach, Etienne, additional, Fujinami, Kaoru, additional, Traboulsi, Elias, additional, Ehlers, Justis, additional, Marino, Meghan, additional, Crowe, Susan, additional, Briggs, Rachael, additional, Borer, Angela, additional, Pinter, Anne, additional, Fecko, Tami, additional, Burgnoni, Nikki, additional, Applegate, Carol, additional, Russell, Leslie, additional, Michaelides, Michel, additional, Esposti, Simona Degli, additional, Moore, Anthony, additional, Webster, Andrew, additional, Connor, Sophie, additional, Barnfield, Jade, additional, Salchi, Zaid, additional, Alfageme, Clara, additional, McCudden, Victoria, additional, Pefkianaki, Maria, additional, Aboshiha, Jonathan, additional, Liew, Gerald, additional, Holder, Graham, additional, Robson, Anthony, additional, King, Alexa, additional, Narvaez, Daniela Ivanova Cajas, additional, Barnard, Katy, additional, Grigg, Catherine, additional, Dunbar, Hannah, additional, Obadeyi, Yetunde, additional, Girard-Claudon, Karine, additional, Swann, Hilary, additional, Rughani, Avani, additional, Amoah, Charles, additional, Carrington, Dominic, additional, Bibi, Kanom, additional, Co, Emerson Ting, additional, Illiyas, Mohamed Nafaz, additional, Begum, Hamida, additional, Carter, Andrew, additional, Georgiou, Anne, additional, Lewism, Selma, additional, Shaheen, Saddaf, additional, Shinmar, Harpreet, additional, Burton, Linda, additional, Bernstein, Paul, additional, Wegner, Kimberley, additional, Sawyer, Briana Lauren, additional, Carlstrom, Bonnie, additional, Farnsworth, Kellian, additional, Fry, Cyrie, additional, Chandler, Melissa, additional, Jenkins, Glen, additional, Creel, Donnel, additional, Birch, David, additional, Wang, Yi-Zhong, additional, Rodriguez, Luis, additional, Locke, Kirsten, additional, Klein, Martin, additional, Mejia, Paulina, additional, Cideciyan, Artur V., additional, Jacobson, Samuel G., additional, Schwartz, Sharon B., additional, Matsui, Rodrigo, additional, Gruzensky, Michaela, additional, Charng, Jason, additional, Roman, Alejandro J., additional, Hahn, Gesa Astrid, additional, Wilhelm, Barbara, additional, Peters, Tobias, additional, Beier, Benjamin, additional, Koenig, Tilman, additional, Kramer, Susanne, additional, Sahel, José-Alain, additional, Mohand-Said, Saddek, additional, Audo, Isabelle, additional, Laurent-Coriat, Caroline, additional, Sliesoraityte, Ieva, additional, Zeitz, Christina, additional, Boyard, Fiona, additional, Tran, Minh Ha, additional, Chapon, Mathias, additional, Chaumette, Céline, additional, Amaudruz, Juliette, additional, Ganem, Victoria, additional, Sancho, Serge, additional, Girmens, Aurore, additional, Wojciechowski, Robert, additional, Khan, Shazia, additional, Emmert, David G., additional, Cain, Dennis, additional, Herring, Mark, additional, Bassinger, Jennifer, additional, Liberto, Lisa, additional, West, Sheila, additional, Ervin, Ann-Margret, additional, Munoz, Beatriz, additional, Dreger, Kurt, additional, Jones, Jennifer, additional, Sadda, Srinivas, additional, Ip, Michael S., additional, Jha, Anamika, additional, Ho, Alex, additional, Kramer, Brendan, additional, Lam, Ngoc, additional, Tawdros, Rita, additional, Zhou, Yong Dong, additional, Carmona, Johana, additional, Uji, Akihito, additional, Hariri, Amirhossein, additional, Lock, Amy, additional, Elshafei, Anthony, additional, Ganegoda, Anushika, additional, Petrossian, Christine, additional, Jenkins, Dennis, additional, Strnad, Edward, additional, Baghdasaryan, Elmira, additional, Ito, Eric, additional, Samson, Feliz, additional, Blanquel, Gloria, additional, Akil, Handan, additional, Melendez, Jhanisus, additional, Lei, Jianqin, additional, Huang, Jianyan, additional, Chau, Jonathan, additional, Falavarjani, Khalil G., additional, Espino, Kristina, additional, Li, Manfred, additional, Mendoza, Maria, additional, Nittala, Muneeswar Gupta, additional, Roded, Netali, additional, Saleh, Nizar, additional, Huang, Ping, additional, Pitetta, Sean, additional, Balasubramanian, Siva, additional, Leahy, Sophie, additional, Srinivas, Sowmya J., additional, Velaga, Swetha B., additional, Margaryan, Teresa, additional, Tepelus, Tudor, additional, Brown, Tyler, additional, Fan, Wenying, additional, Murillo, Yamileth, additional, Shi, Yue, additional, Aguilar, Katherine, additional, Chan, Cynthia, additional, Santos, Lisa, additional, Seo, Brian, additional, Sison, Christopher, additional, Perez, Silvia, additional, Chao, Stephanie, additional, Miyasato, Kelly, additional, Higgins, Julia, additional, Luna, Zoila, additional, Menchaca, Anita, additional, Gonzalez, Norma, additional, Robledo, Vicky, additional, Carig, Karen, additional, Baker, Kirstie, additional, Ellenbogen, David, additional, Bluemel, Daniel, additional, Sanford, Theo, additional, Linares, Daisy, additional, Tran, Mei, additional, Nava, Lorane, additional, Oberoi, Michelle, additional, Romero, Mark, additional, Chiguil, Vivian, additional, Bynum-Bain, Grantley, additional, Kim, Monica, additional, Mendiguren, Carolina, additional, Huang, Xiwen, additional, Smith, Monika, additional, and Sarreal, Natalie, additional

Published
2018
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48. Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome

Author

Michaelides, Michel, Urquhart, Jill, Holder, Graham E., Restori, Marie, Kayali, Nuha, Manson, Forbes D.C., and Black, Graeme C.M.

Subjects
Ophthalmology -- Genetic aspects, Health
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajo.2005.09.018 Byline: Michel Michaelides (a)(b), Jill Urquhart (c), Graham E. Holder (a), Marie Restori (a), Nuha Kayali (d), Forbes D.C. Manson (c)(e), Graeme C.M. Black (e)(f) Abstract: To present the detailed phenotype of a subject with MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and to investigate the underlying molecular genetic basis. Author Affiliation: (a) Moorfields Eye Hospital, City Road, London, United Kingdom (b) Institute of Ophthalmology, University College London, London, United Kingdom (c) Centre for Molecular Medicine, Division of Human Development, University of Manchester, Manchester, United Kingdom (d) Whipps Cross University Hospital, Leytonstone, London, United Kingdom (e) Department of Clinical Genetics, St Mary's Hospital, Central Manchester and Manchester Children's University Hospitals NHS Trust, Manchester, United Kingdom (f) Academic Unit of Ophthalmology, Manchester Royal Eye Hospital, Central Manchester and Manchester Children's University Hospitals NHS Trust, Manchester, United Kingdom Article History: Accepted 13 September 2005

Published
2006

49. Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

Author

Rupert W, Strauss, Beatriz, Muñoz, Anamika, Jha, Alexander, Ho, Artur V, Cideciyan, Melissa L, Kasilian, Yulia, Wolfson, SriniVas, Sadda, Sheila, West, Hendrik P N, Scholl, and Michel, Michaelides

Subjects
Adult, Male, genetic structures, Fundus Oculi, Optical Imaging, Reproducibility of Results, Middle Aged, Ophthalmoscopy, Macular Degeneration, Humans, Stargardt Disease, Female, Macula Lutea, Original Article, Fluorescein Angiography
Abstract

Purpose To compare grading results between short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt macular dystrophy. Design Reliability study. Methods setting: Moorfields Eye Hospital, London (United Kingdom). patients: Eighteen patients (18 eyes) with Stargardt macular dystrophy. observation procedures: A series of 3 fundus autofluorescence images using 3 different acquisition parameters on a custom-patched device were obtained: (1) 25% laser power and total sensitivity 87; (2) 25% laser power and freely adjusted sensitivity; and (3) 100% laser power and freely adjusted total sensitivity (conventional). The total area of 2 hypoautofluorescent lesion types (definitely decreased autofluorescence and poorly demarcated questionably decreased autofluorescence) was measured. main outcome measures: Agreement in grading between the 3 imaging methods was assessed by kappa coefficients (κ) and intraclass correlation coefficients. Results The mean ± standard deviation area for images acquired with 25% laser power and freely adjusted total sensitivity was 2.04 ± 1.87 mm2 for definitely decreased autofluorescence (n = 15) and 1.86 ± 2.14 mm2 for poorly demarcated questionably decreased autofluorescence (n = 12). The intraclass correlation coefficient (95% confidence interval) was 0.964 (0.929, 0.999) for definitely decreased autofluorescence and 0.268 (0.000, 0.730) for poorly demarcated questionably decreased autofluorescence. Conclusions Short-wavelength reduced-illuminance and conventional fundus autofluorescence imaging showed good concordance in assessing areas of definitely decreased autofluorescence. However, there was significantly higher variability between imaging modalities for assessing areas of poorly demarcated questionably decreased autofluorescence.

Published
2016

50. Bilateral Epiretinal Membranes in Gorlin Syndrome Associated With a Novel PTCH Mutation

Author

Nicholas G. Strouthidis, Eamonn R. Maher, Joan Forsyth, Anthony G. Robson, Andrew C. Scott, Michel Michaelides, and Patricio G. Schlottmann

Subjects
Adult, Male, Patched Receptors, Patched, Pathology, medicine.medical_specialty, genetic structures, DNA Mutational Analysis, Nonsense mutation, Basal Cell Nevus Syndrome, Receptors, Cell Surface, Fluorescence, Functional Laterality, Ophthalmoscopy, Electroretinography, medicine, Humans, medicine.diagnostic_test, business.industry, Epiretinal Membrane, medicine.disease, eye diseases, Patched-1 Receptor, Ophthalmology, Phenotype, Codon, Nonsense, sense organs, Epiretinal membrane, business, Erg, Tomography, Optical Coherence, Retinopathy
Abstract

Purpose To present the detailed ocular phenotype of a subject with Gorlin syndrome (GS) (basal cell nevus syndrome; OMIM 109400) and to undertake mutation screening of the gene Patched ( PTCH ). Design Interventional case report. Methods Clinical examination, color fundus photography, fundus autofluorescence imaging, optical coherence tomography (OCT), detailed electrophysiological assessment, and mutation screening of PTCH . The protocol of the study was approved by the local Ethics Committee and informed consent was obtained. Results A 34-year-old man with findings consistent with GS was identified. Ophthalmoscopy and OCT identified bilateral epiretinal membranes (ERMs). Fundus autofluorescence (AF) imaging and electrophysiological testing [full-field electroretinogram (ERG), pattern ERG, and electrooculogram] were normal. Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X), the gene associated with GS. Conclusions We present a case of bilateral ERM in GS with a molecular genetic diagnosis. We also document data supporting the lack of focal or generalized retinal dysfunction.

Published
2007
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