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

Author

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

Subjects
Adult, Male, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, Visual Acuity, ABCA4, Sensitivity and Specificity, Retina, Young Adult, Ophthalmology, Humans, Stargardt Disease, Medicine, Prospective Studies, Fluorescein Angiography, Scotoma, Prospective cohort study, medicine.diagnostic_test, biology, business.industry, Blind spot, Middle Aged, Fluorescein angiography, medicine.disease, eye diseases, Clinical trial, Stargardt disease, biology.protein, Visual Field Tests, ATP-Binding Cassette Transporters, Female, Visual Fields, medicine.symptom, business, Microperimetry, Tomography, Optical Coherence
Abstract

Mean sensitivity (MS) derived from a standard test grid using microperimetry is a sensitive outcome measure in clinical trials investigating new treatments for degenerative retinal diseases. This study hypothesizes that the functional decline is faster at the edge of the dense scotoma (eMS) than by using the overall MS.Multicenter, international, prospective cohort study: ProgStar Study.Stargardt disease type 1 patients (carrying at least 1 mutation in the ABCA4 gene) were followed over 12 months using microperimetry with a Humphrey 10-2 test grid. Customized software was developed to automatically define and selectively follow the test points directly adjacent to the dense scotoma points and to calculate their mean sensitivity (eMS).Among 361 eyes (185 patients), the mean age was 32.9 ± 15.1 years old. At baseline, MS was 10.4 ± 5.2 dB (n = 361), and the eMS was 9.3 ± 3.3 dB (n = 335). The yearly progression rate of MS (1.5 ± 2.1 dB/year) was significantly lower (β = -1.33; P.001) than that for eMS (2.9 ± 2.9 dB/year). There were no differences between progression rates using automated grading and those using manual grading (β = .09; P = .461).In Stargardt disease type 1, macular sensitivity declines significantly faster at the edge of the dense scotoma than in the overall test grid. An automated, time-efficient approach for extracting and grading eMS is possible and appears valid. Thus, eMS offers a valuable tool and sensitive outcome parameter with which to follow Stargardt patients in clinical trials, allowing clinical trial designs with shorter duration and/or smaller cohorts.

Published
2020

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

Author

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

Subjects
Adult, Male, Fixation stability, medicine.medical_specialty, Adolescent, Visual Acuity, Fixation, Ocular, Retina, Article, Standard deviation, Macular Degeneration, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, medicine, Humans, Stargardt Disease, Prospective Studies, Young adult, Child, Prospective cohort study, Aged, business.industry, Middle Aged, medicine.disease, Confidence interval, Stargardt disease, Fixation (visual), 030221 ophthalmology & optometry, Visual Field Tests, Female, Visual Fields, business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies
Abstract

Purpose To investigate the natural history of Stargardt disease (STGD1) using fixation location and fixation stability. Design Multicenter, international, prospective cohort study. Methods Fixation testing was performed using the Nidek MP-1 microperimeter as part of the prospective, multicenter, natural history study on the Prog ression of Star gardt disease (ProgStar). A total of 238 patients with ABCA4-related STGD1 were enrolled at baseline (bilateral enrollment in 86.6%) and underwent repeat testing at months 6 and 12. Results Outcome measures included the distance of the preferred retinal locus from the fovea (PRL) and the bivariate contour ellipse area (BCEA). After 12 months of follow-up, the change in the eccentricity of the PRL from the anatomic fovea was −0.0014 degrees (95% confidence interval [CI], −0.27 degrees, 0.27 degrees; P = .99). The deterioration in the stability of fixation as expressed by a larger BCEA encompassing 1 standard deviation of all fixation points was 1.21 degrees squared (deg2) (95% CI, −1.23 deg2, 3.65 deg2; P = .33). Eyes with increases and decreases in PRL eccentricity and/or BCEA values were observed. Conclusions Our observations point to the complexity of fixation parameters. The association of increasingly eccentric and unstable fixation with longer disease duration that is typically found in cross-sectional studies may be countered within individual patients by poorly understood processes like neuronal adaptation. Nevertheless, fixation parameters may serve as useful secondary outcome parameters in selected cases and for counseling patients to explain changes to their visual functionality.

Published
2018

3. Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

Author

Aline Antonio, José-Alain Sahel, Thierry Léveillard, Said El Shamieh, Christelle Michiels, Isabelle Audo, Marion Neuillé, Mélanie Letexier, Olivier Goureau, Christel Condroyer, Marie-Elise Lancelot, Christina Zeitz, Elise Orhan, Saddek Mohand-Said, Fiona Boyard, Vanessa Démontant, Jean-Paul Saraiva, and Angélique Terray

Subjects
Male, genetic structures, Nonsense mutation, Cell Cycle Proteins, Genes, Recessive, Biology, Photoreceptor cell, Mice, Retinal Rod Photoreceptor Cells, Report, Retinitis pigmentosa, medicine, Rod-cone dystrophy, Genetics, Animals, Humans, Exome, Genetics(clinical), Outer nuclear layer, Genetics (clinical), Exome sequencing, Retinal pigment epithelium, medicine.disease, Molecular biology, eye diseases, Pedigree, medicine.anatomical_structure, Codon, Nonsense, Female, sense organs, Transcriptome, Retinitis Pigmentosa
Abstract

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder characterized by photoreceptor cell death and genetic heterogeneity. Mutations in many genes have been implicated in the pathophysiology of RCD, but several others remain to be identified. Herein, we applied whole-exome sequencing to a consanguineous family with one subject affected with RCD and identified a homozygous nonsense mutation, c.226CT (p.Arg76(∗)), in KIZ, which encodes centrosomal protein kizuna. Subsequent Sanger sequencing of 340 unrelated individuals with sporadic and autosomal-recessive RCD identified two other subjects carrying pathogenic variants in KIZ: one with the same homozygous nonsense mutation (c.226CT [p.Arg76(∗)]) and another with compound-heterozygous mutations c.119_122delAACT (p.Lys40Ilefs(∗)14) and c.52GT (p.Glu18(∗)). Transcriptomic analysis in mice detected mRNA levels of the mouse ortholog (Plk1s1) in rod photoreceptors, as well as its decreased expression when photoreceptors degenerated in rd1 mice. The presence of the human KIZ transcript was confirmed by quantitative RT-PCR in the retina, the retinal pigment epithelium, fibroblasts, and whole-blood cells (highest expression was in the retina). RNA in situ hybridization demonstrated the presence of Plk1s1 mRNA in the outer nuclear layer of the mouse retina. Immunohistology revealed KIZ localization at the basal body of the cilia in human fibroblasts, thus shedding light on another ciliary protein implicated in autosomal-recessive RCD.

Published
2014
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