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4. Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial

Author

Mellors, Ashleigh, Mallory, Lucy, Teli, Seema, Sheth, Viral, Langmann, Andrea, Bruce, Alison, Smith, Angie, Powell, Christine, Cross, Meriel, North, Lorraine, Abbott, Joseph, Mohan, Meyyammai, Kafil-Hussain, Namir, Joseph, Annie, Webb, Hilary, Redmill, Brian, Lawler, Carly, Sturm, Veit, Purohit, Ravi, Gupta, Mohit, Elliott, Sue, Mataftsi, Asimina, Hamada, Samer, Evans, Megan, Hatebur, Simone, Hussain, Shazia, Orr, Julie, Farooq, Shegufta, Osborne, Daniel, Begum, Farzana, Crofts, Catherine, Pausch, Franziska, Gaugl, Heike, Haug, Jennifer, Jones, Ruth, Steinmair, Karin, Sharma, Tina, Hillier, Stephanie, Dent, Michelle, Patel, Selina, Lienhart, Anna, Pennington, Emma, Maymond, Sian, Ludden, Siobhán, Zafeiropoulos, Parakevas, Asproudis, Ioannis, Tsironi, Evangelia, Scheitlin, Caroline, Chauhan, Monica, Toor, Sonia, Bennett, Carolyn, McPherson, Charlie, Ramm, Laura, Bibi, Mashal, Hussain, Hafsah, Samaddar, Julie, Shinh, Raadhika, Sarna, Sachi, Amlani, Kavita, Sauer, Wiebke, Kurt, Andrea, Chung-Crossley, Jenny, Ashraf, Nabila, Tailor, Vijay, Stewart, Catherine, Proudlock, Frank A, Hisaund, Michael, Maconachie, Gail, Papageorgiou, Eleni, Manouchehrinia, Ali, Dahlmann-Noor, Annegret, Khandelwal, Payal, Self, Jay, Beisse, Christina, and Gottlob, Irene

Published
2024
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5. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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8. 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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11. OCT segmentation: Integrating open parametric contour model of the retinal layers and shape constraint to the Mumford-Shah functional

Author

Duan, Jinming, Xie, Weicheng, Liu, Ryan Wen, Tench, Christopher, Gottlob, Irene, Proudlock, Frank, and Bai, Li

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

In this paper, we propose a novel retinal layer boundary model for segmentation of optical coherence tomography (OCT) images. The retinal layer boundary model consists of 9 open parametric contours representing the 9 retinal layers in OCT images. An intensity-based Mumford-Shah (MS) variational functional is first defined to evolve the retinal layer boundary model to segment the 9 layers simultaneously. By making use of the normals of open parametric contours, we construct equal sized adjacent narrowbands that are divided by each contour. Regional information in each narrowband can thus be integrated into the MS energy functional such that its optimisation is robust against different initialisations. A statistical prior is also imposed on the shape of the segmented parametric contours for the functional. As such, by minimising the MS energy functional the parametric contours can be driven towards the true boundaries of retinal layers, while the similarity of the contours with respect to training OCT shapes is preserved. Experimental results on real OCT images demonstrate that the method is accurate and robust to low quality OCT images with low contrast and high-level speckle noise, and it outperforms the recent geodesic distance based method for segmenting 9 layers of the retina in OCT images.

Published
2018

12. SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability.

Author

Roychaudhury, Arkaprava, Lee, Yu‐Ri, Choi, Tae‐Ik, Thomas, Mervyn G., Khan, Tahir N., Yousaf, Hammad, Skinner, Cindy, Maconachie, Gail, Crosier, Moira, Horak, Holli, Constantinescu, Cris S., Kim, Tae‐Yoon, Lee, Kang‐Han, Kyung, Jae‐Jun, Wang, Tao, Ku, Bonsu, Chodirker, Bernard N., Hammer, Michael F., Gottlob, Irene, and Norton, William H. J.

Subjects
X chromosome, EYE movements, GENETIC disorders, DISABILITIES, HUMAN phenotype, AGENESIS of corpus callosum
Abstract

Objective: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X‐linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities. Methods: Employing exome or genome sequencing, here we identified 4 missense variants (c.475C > G; p.H159D, c.1373C > A; p.T458N, and c.1585G > A; p.E529K, c.953C > T; p.S318L) and a putative truncating variant (c.1413_1414del; p.Y471*) in the SRPK3 gene in 9 XLID patients from 5 unrelated families. To validate SRPK3 as a novel XLID gene, we established a knockout (KO) model of the SRPK3 orthologue in zebrafish. Results: The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Together, these data indicate a pathological role of SRPK3 in neurodevelopmental disorders. In post‐fertilization day 5 larvae (free swimming stage), KO zebrafish exhibited severe deficits in eye movement and swim bladder inflation, mimicking uncontrolled ocular movement and physical clumsiness observed in human patients. In adult KO zebrafish, cerebellar agenesis and behavioral abnormalities were observed, recapitulating human phenotypes of cerebellar atrophy and intellectual disability. Interpretation: Overall, these results suggest a crucial role of SRPK3 in the pathogenesis of syndromic X‐linked intellectual disability and provide new insights into brain development, cognitive and ocular dysfunction in both humans and zebrafish. ANN NEUROL 2024;96:914–931 [ABSTRACT FROM AUTHOR]

Published
2024
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13. Automated Segmentation of Retinal Layers from Optical Coherent Tomography Images Using Geodesic Distance

Author

Duan, Jinming, Tench, Christopher, Gottlob, Irene, Proudlock, Frank, and Bai, Li

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Optical coherence tomography (OCT) is a non-invasive imaging technique that can produce images of the eye at the microscopic level. OCT image segmentation to localise retinal layer boundaries is a fundamental procedure for diagnosing and monitoring the progression of retinal and optical nerve disorders. In this paper, we introduce a novel and accurate geodesic distance method (GDM) for OCT segmentation of both healthy and pathological images in either two- or three-dimensional spaces. The method uses a weighted geodesic distance by an exponential function, taking into account both horizontal and vertical intensity variations. The weighted geodesic distance is efficiently calculated from an Eikonal equation via the fast sweeping method. The segmentation is then realised by solving an ordinary differential equation with the geodesic distance. The results of the GDM are compared with manually segmented retinal layer boundaries/surfaces. Extensive experiments demonstrate that the proposed GDM is robust to complex retinal structures with large curvatures and irregularities and it outperforms the parametric active contour algorithm as well as the graph theoretic based approaches for delineating the retinal layers in both healthy and pathological images., Comment: 20 pages, 17 figures

Published
2016

14. Retinal imaging with hand-held optical coherence tomography in older people with or without postoperative delirium after hip fracture surgery: A feasibility study.

Author

Noah, Abiodun M., Spendlove, Jennie, Tu, Zhanhan, Proudlock, Frank, Constantinescu, Cris S., Gottlob, Irene, Auer, Dorothee P., Dineen, Rob A., and Moppett, Iain K.

Subjects
OPTICAL coherence tomography, RETINAL imaging, OLDER people, HIP fractures, HIP surgery, OPTICAL images, DELIRIUM, NERVE fibers
Abstract

Introduction: Postoperative delirium in older people may result from the interaction between intrinsic brain vulnerability (e.g. neurodegeneration) and precipitating factors (e.g. surgery induced cytokines). Intrinsic brain vulnerability may be overt (e.g. Alzheimer's disease) or preclinical. In cognitively intact older people presenting for surgery, identification of preclinical neurodegeneration using bedside tools could aid postoperative delirium risk stratification. Thinning of the circumpapillary retinal nerve fibre layer thickness is associated with neurodegenerative disorders e.g. Alzheimer's disease. We propose that thinning of the retinal nerve fibre layer may be present some older people with postoperative delirium due to preclinical neurodegeneration, albeit to a lesser extent than in overt dementia. Objectives: The primary objective: Feasibility of acquiring usable retinal images with the hand-held optical coherence device, at the bedside of older, hip fracture surgery patients. Secondary objective: Comparison of the circumpapillary retinal nerve fibre layer thickness between people who did/did not have postoperative delirium. Proportion of exclusions due to retinal pathology. Method: Feasibility study involving 30, cognitively intact, older people recovering from hip fracture surgery. Retinal images were obtained using the hand-held optical coherence tomography device at the participants' bedside. Imaging was deferred in participants who had postoperative delirium. Results: Retinal images that could be assessed for circumpapillary retinal nerve fibre layer thickness were obtained in 26 participants (22 no postoperative delirium, 4 postoperative delirium). The mean circumpapillary retinal nerve fibre layer thickness was lower in the participants who had postoperative delirium compared to those who did not experience postoperative delirium (Mean (95% CI) of 76.50 (62.60–90.40) vs 89.19 (85.41–92.97) respectively). Conclusion: Retinal imaging at the patient's bedside, using hand-held OCT is feasible. Our data suggests that the circumpapillary retinal nerve fibre layer may be thinner in older people who experience postoperative delirium compared to those who do not. Further studies are required. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Our current understanding of clinical characteristics and the genetics of patients with albinism.

Author

Chean, Chung Shen, Tu, Zhanhan, Thomas, Mervyn G., and Gottlob, Irene

Subjects
OPTIC nerve abnormalities, ALBINISM, REFRACTIVE errors, SYMPTOMS, NYSTAGMUS, STRABISMUS, HYPOPIGMENTATION, LOW vision, VISUAL acuity, PHENOTYPES, GENOTYPES, GENETIC testing
Abstract

Albinism is a heterogenous disease with variable phenotypic and genotypic presentations. Diagnosis can be challenging and clinical evaluation strategies vary. This review examines the phenotypic and genotypic characteristics of albinism and discusses evaluation strategies used to assess its variable clinical presentations. Additionally, it explores the challenges faced by clinicians in diagnosing albinism and issues related to genetic testing, interpretation and subsequent counseling of affected patients and their families. It is important to note that although current management of albinism is mainly supportive and focuses on optimizing vision, there are emerging therapies with promising translational benefit. Ongoing research in the field of albinism is benefiting from recent advances, particularly in retinal imaging and phenotyping. Similarly, access to advanced technologies like next-generation and long-read sequencing has improved diagnostic accuracy for previous cases with missing heritability. Deeper genotyping and phenotyping as well as multicentre collaborative approaches have allowed better understanding of genotype-phenotype correlations. There is still a need for more research on the psychosocial aspects of albinism. Encouraging involvement of patients and the public in determining research priorities in this area is essential for a better understanding of the psychosocial impact on individuals with albinism. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Achromatopsia—Visual Cortex Stability and Plasticity in the Absence of Functional Cones

Author

Molz, Barbara, primary, Herbik, Anne, additional, Baseler, Heidi A., additional, de Best, Peter, additional, Raz, Noa, additional, Gouws, Andre, additional, Ahmadi, Khazar, additional, Lowndes, Rebecca, additional, McLean, Rebecca J., additional, Gottlob, Irene, additional, Kohl, Susanne, additional, Choritz, Lars, additional, Maguire, John, additional, Kanowski, Martin, additional, Käsmann-Kellner, Barbara, additional, Wieland, Ilse, additional, Banin, Eyal, additional, Levin, Netta, additional, Morland, Antony B., additional, and Hoffmann, Michael B., additional

Published
2023
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28. Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Author

Jen, Joanna C., Chan, Wai-Man, Bosley, Thomas M., Wan, Jijun, Carr, Janai R., Rüb, Udo, Shattuck, David, Salamon, Georges, Kudo, Lili C., Ou, Jing, Kansu, Tülay, al Dhalaan, Hesham, al Zayed, Zayed, MacDonald, David B., Stigsby, Bent, Plaitakis, Andreas, Dretakis, Emmanuel K., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Wang, Qing, Wang, Lejin, Andrews, Caroline, Yamada, Koki, Demer, Joseph L., Karim, Shaheen, Alger, Jeffry R., Geschwind, Daniel H., Deller, Thomas, Sicotte, Nancy L., Nelson, Stanley F., Baloh, Robert W., and Engle, Elizabeth C.

Published
2004

30. Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial

Author

Proudlock, Frank A, Hisaund, Michael, Maconachie, Gail, Papageorgiou, Eleni, Manouchehrinia, Ali, Dahlmann-Noor, Annegret, Khandelwal, Payal, Self, Jay, Beisse, Christina, Gottlob, Irene, Mellors, Ashleigh, Mallory, Lucy, Teli, Seema, Sheth, Viral, Langmann, Andrea, Bruce, Alison, Smith, Angie, Powell, Christine, Cross, Meriel, North, Lorraine, Abbott, Joseph, Mohan, Meyyammai, Kafil-Hussain, Namir, Joseph, Annie, Webb, Hilary, Redmill, Brian, Lawler, Carly, Sturm, Veit, Purohit, Ravi, Gupta, Mohit, Elliott, Sue, Mataftsi, Asimina, Hamada, Samer, Evans, Megan, Hatebur, Simone, Hussain, Shazia, Orr, Julie, Farooq, Shegufta, Osborne, Daniel, Begum, Farzana, Crofts, Catherine, Pausch, Franziska, Gaugl, Heike, Haug, Jennifer, Jones, Ruth, Steinmair, Karin, Sharma, Tina, Hillier, Stephanie, Dent, Michelle, Patel, Selina, Lienhart, Anna, Pennington, Emma, Maymond, Sian, Ludden, Siobhán, Zafeiropoulos, Parakevas, Asproudis, Ioannis, Tsironi, Evangelia, Scheitlin, Caroline, Chauhan, Monica, Toor, Sonia, Bennett, Carolyn, McPherson, Charlie, Ramm, Laura, Bibi, Mashal, Hussain, Hafsah, Samaddar, Julie, Shinh, Raadhika, Sarna, Sachi, Amlani, Kavita, Sauer, Wiebke, Kurt, Andrea, Chung-Crossley, Jenny, Ashraf, Nabila, Tailor, Vijay, and Stewart, Catherine

Abstract

Amblyopia, the most common visual impairment of childhood, is a public health concern. An extended period of optical treatment before patching is recommended by the clinical guidelines of several countries. The aim of this study was to compare an intensive patching regimen, with and without extended optical treatment (EOT), in a randomised controlled trial.

Published
2024
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34. Predicting Acute and Post-Recovery Outcomes in Cerebral Malaria and Other Comas by Optical Coherence Tomography (OCT in CM) – A protocol for an observational cohort study of Malawian children

Author

Wilson, Kyle J, primary, Tu, Zhanhan, additional, Mbale, Emmie, additional, Mhango, Priscilla P, additional, Kayange, Petros, additional, Gladstone, Melissa J., additional, Harding, Simon, additional, Gottlob, Irene, additional, Garcia-Finana, Marta, additional, Shen, Yaochun, additional, Taylor, Terrie E, additional, Seydel, Karl B, additional, Zheng, Yalin, additional, and Beare, Nicholas AV, additional

Published
2023
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35. Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

Author

Kim, Cheol-Hee, primary, Lee, Yu-Ri, additional, Thomas, Mervyn, additional, Roychaudhury, Arkaprava, additional, Skinner, Cindy, additional, Maconachie, Gail, additional, Crosier, Moira, additional, Horak, Holli, additional, Constantinescu, Cris, additional, Choi, Tae-Ik, additional, Kyung, Jae-Jun, additional, Wang, Tao, additional, Ku, Bonsu, additional, Chodirker, Bernard, additional, Hammer, Michael, additional, Gottlob, Irene, additional, Norton, William, additional, Chudley, Albert, additional, and Schwartz, Charles, additional

Published
2023
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44. Abnormal foveal morphology in carriers of oculocutaneous albinism.

Author

Kuht, Helen J., Thomas, Mervyn G., McLean, Rebecca J., Sheth, Viral, Proudlock, Frank A., and Gottlob, Irene

Abstract

Background/aims To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study. Methods Handheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured. Results Foveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p<0.001) at the central fovea compared with controls. BCVA of carriers was between -0.16 and 0.18 logMAR (mean: 0.0 logMAR). No significant differences in BCVA was noted between OCA carriers or controls (p=0.83). In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2, novel OCA2 variants (n=3) and heterozygosity of the pathogenic TYR haplotype. Conclusion We have, for the first time, identified foveal abnormalities in OCA carriers. This provides clinical value, particularly in cases where limited phenotype data are available. Our findings raise the possibility that previously reported mild cases of foveal hypoplasia or isolated foveal hypoplasia could correspond to OCA carrier status. [ABSTRACT FROM AUTHOR]

Published
2023
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47. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Author

Kuht, Helen J., primary, Maconachie, Gail D.E., additional, Han, Jinu, additional, Kessel, Line, additional, van Genderen, Maria M., additional, McLean, Rebecca J., additional, Hisaund, Michael, additional, Tu, Zhanhan, additional, Hertle, Richard W., additional, Gronskov, Karen, additional, Bai, Dayong, additional, Wei, Aihua, additional, Li, Wei, additional, Jiao, Yonghong, additional, Smirnov, Vasily, additional, Choi, Jae-Hwan, additional, Tobin, Martin D., additional, Sheth, Viral, additional, Purohit, Ravi, additional, Dawar, Basu, additional, Girach, Ayesha, additional, Strul, Sasha, additional, May, Laura, additional, Chen, Fred K., additional, Heath Jeffery, Rachael C., additional, Aamir, Abdullah, additional, Sano, Ronaldo, additional, Jin, Jing, additional, Brooks, Brian P., additional, Kohl, Susanne, additional, Arveiler, Benoit, additional, Montoliu, Lluis, additional, Engle, Elizabeth C., additional, Proudlock, Frank A., additional, Nishad, Garima, additional, Pani, Prateek, additional, Varma, Girish, additional, Gottlob, Irene, additional, and Thomas, Mervyn G., additional

Published
2022
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48. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Author

Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne, Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, and Kohl, Susanne

Abstract

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying “likely disease-causing” variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as “likely disease-causing” according to ACMG/AMP criteria. We report 48 novel “likely disease-causing” variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.

Published
2022
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49. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia:A Multicenter Study

Author

Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Grønskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G., Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Grønskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, and Thomas, Mervyn G.

Abstract

Purpose: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). Design: Multicenter, observational study. Participants: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). Methods: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. Main Outcome Measures: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS–), molecular diagnosis, and visual acuity (VA). Results: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS– (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky–Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. Conclusions: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms

Published
2022

50. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

Author

MS Oogheelkunde, Child Health, Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G., MS Oogheelkunde, Child Health, Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, and Thomas, Mervyn G.

Published
2022

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