IDEAS home Printed from https://ideas.repec.org/p/cdl/ucscec/qt1n6957hk.html
   My bibliography  Save this paper

Characterization of Retinal Structure in ATF6-Associated Achromatopsia

Author

Listed:
  • Mastey, Rebecca R
  • Georgiou, Michalis
  • Langlo, Christopher S
  • Kalitzeos, Angelos
  • Patterson, Emily J
  • Kane, Thomas
  • Singh, Navjit
  • Vincent, Ajoy
  • Moore, Anthony T
  • Tsang, Stephen H
  • Lin, Jonathan H
  • Young, Marielle P
  • Hartnett, M Elizabeth
  • Héon, Elise
  • Kohl, Susanne
  • Michaelides, Michel
  • Carroll, Joseph

Abstract

Purpose Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought to test the hypothesis that ATF6-associated ACHM is a structurally distinct form of congenital ACHM. Methods Seven genetically confirmed subjects from five nonconsanguineous families were recruited. Foveal hypoplasia and the integrity of the ellipsoid zone (EZ) band (a.k.a., IS/OS) were graded from optical coherence tomography (OCT) images. Images of the photoreceptor mosaic were acquired using confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO). Parafoveal cone and rod density values were calculated and compared to published normative data as well as data from two subjects harboring CNGA3 or CNGB3 mutations who were recruited for comparative purposes. Additionally, nonconfocal dark-field AOSLO images of the retinal pigment epithelium were obtained, with quantitative analysis performed in one subject with ATF6-ACHM. Results Foveal hypoplasia was observed in all subjects with ATF6 mutations. Absence of the EZ band within the foveal region (grade 3) or appearance of a hyporeflective zone (grade 4) was seen in all subjects with ATF6 using OCT. There was no evidence of remnant foveal cone structure using confocal AOSLO, although sporadic cone-like structures were seen in nonconfocal split-detection AOSLO. There was a lack of cone structure in the parafovea, in direct contrast to previous reports. Conclusions Our data demonstrate a near absence of cone structure in subjects harboring ATF6 mutations. This implicates ATF6 as having a major role in cone development and suggests that at least a subset of subjects with ATF6-ACHM have markedly fewer cellular targets for cone-directed gene therapies than do subjects with CNGA3- or CNGB3-ACHM.

Suggested Citation

  • Mastey, Rebecca R & Georgiou, Michalis & Langlo, Christopher S & Kalitzeos, Angelos & Patterson, Emily J & Kane, Thomas & Singh, Navjit & Vincent, Ajoy & Moore, Anthony T & Tsang, Stephen H & Lin, Jon, 2019. "Characterization of Retinal Structure in ATF6-Associated Achromatopsia," Santa Cruz Department of Economics, Working Paper Series qt1n6957hk, Department of Economics, UC Santa Cruz.
  • Handle: RePEc:cdl:ucscec:qt1n6957hk
    as

    Download full text from publisher

    File URL: https://www.escholarship.org/uc/item/1n6957hk.pdf;origin=repeccitec
    Download Restriction: no
    ---><---

    References listed on IDEAS

    as
    1. Charles I. Jones, 2015. "Pareto and Piketty: The Macroeconomics of Top Income and Wealth Inequality," Journal of Economic Perspectives, American Economic Association, vol. 29(1), pages 29-46, Winter.
    2. Fuyuo Nagayama, 2013. "Wealth inequality among the Forbes 400 and U.S. households overall," Research Rap Special Report, Federal Reserve Bank of Philadelphia, issue Jul.
    3. Edward Wolff & Maury Gittleman, 2014. "Inheritances and the distribution of wealth or whatever happened to the great inheritance boom?," The Journal of Economic Inequality, Springer;Society for the Study of Economic Inequality, vol. 12(4), pages 439-468, December.
    4. Sebastian Kripfganz & Claudia Schwarz, 2019. "Estimation of linear dynamic panel data models with time‐invariant regressors," Journal of Applied Econometrics, John Wiley & Sons, Ltd., vol. 34(4), pages 526-546, June.
    5. Facundo Alvaredo & Anthony Atkinson & Thomas Piketty & Emmanuel Saez, 2013. "The Top 1% in International and Historical Perspective," Post-Print halshs-00847231, HAL.
    6. Lester C. Thurow, 1971. "The Income Distribution as a Pure Public Good," The Quarterly Journal of Economics, President and Fellows of Harvard College, vol. 85(2), pages 327-336.
    7. Robert Arnott & William Bernstein & Lillian Wu, 2015. "The Myth of Dynastic Wealth: The Rich Get Poorer," Cato Journal, Cato Journal, Cato Institute, vol. 35(3), pages 447-485, Fall.
    8. Semykina, Anastasia & Wooldridge, Jeffrey M., 2010. "Estimating panel data models in the presence of endogeneity and selection," Journal of Econometrics, Elsevier, vol. 157(2), pages 375-380, August.
    9. Heckman, James, 2013. "Sample selection bias as a specification error," Applied Econometrics, Russian Presidential Academy of National Economy and Public Administration (RANEPA), vol. 31(3), pages 129-137.
    10. Manuel Arellano & Stephen Bond, 1991. "Some Tests of Specification for Panel Data: Monte Carlo Evidence and an Application to Employment Equations," The Review of Economic Studies, Review of Economic Studies Ltd, vol. 58(2), pages 277-297.
    11. repec:hal:pseose:halshs-00847231 is not listed on IDEAS
    12. Jeffrey M Wooldridge, 2010. "Econometric Analysis of Cross Section and Panel Data," MIT Press Books, The MIT Press, edition 2, volume 1, number 0262232588, December.
    13. Facundo Alvaredo & Anthony B. Atkinson & Thomas Piketty & Emmanuel Saez, 2013. "The Top 1 Percent in International and Historical Perspective," Journal of Economic Perspectives, American Economic Association, vol. 27(3), pages 3-20, Summer.
    14. Klass, Oren S. & Biham, Ofer & Levy, Moshe & Malcai, Ofer & Solomon, Sorin, 2006. "The Forbes 400 and the Pareto wealth distribution," Economics Letters, Elsevier, vol. 90(2), pages 290-295, February.
    15. Reinhard Schunck, 2013. "Within and between estimates in random-effects models: Advantages and drawbacks of correlated random effects and hybrid models," Stata Journal, StataCorp LLC, vol. 13(1), pages 65-76, March.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Maria Elena Bontempi & Jan Ditzen, 2023. "GMM-lev estimation and individual heterogeneity: Monte Carlo evidence and empirical applications," Papers 2312.00399, arXiv.org, revised Dec 2023.
    2. Dilmaghani, Maryam, 2020. "Gender differences in performance under time constraint: Evidence from chess tournaments," Journal of Behavioral and Experimental Economics (formerly The Journal of Socio-Economics), Elsevier, vol. 89(C).
    3. Bertoni, Fabio & Colombo, Massimo G. & Grilli, Luca, 2011. "Venture capital financing and the growth of high-tech start-ups: Disentangling treatment from selection effects," Research Policy, Elsevier, vol. 40(7), pages 1028-1043, September.
    4. Sebastian Kripfganz, 2017. "Sequential (two-stage) estimation of linear panel-data models," German Stata Users' Group Meetings 2017 03, Stata Users Group.
    5. Juergen Bitzer & Erkan Goeren, 2018. "Foreign Aid and Subnational Development: A Grid Cell Analysis," Working Papers V-407-18, University of Oldenburg, Department of Economics, revised Mar 2018.
    6. Valeria Costantini & Francesco Crespi, 2015. "European enlargement policy, technological capabilities and sectoral export dynamics," The Journal of Technology Transfer, Springer, vol. 40(1), pages 25-69, February.
    7. Eppinger, Peter S., 2019. "Service offshoring and firm employment," Journal of International Economics, Elsevier, vol. 117(C), pages 209-228.
    8. Pardesi, Mantej, 2024. "Productivity convergence and firm’s training strategy," ROA Research Memorandum 003, Maastricht University, Research Centre for Education and the Labour Market (ROA).
    9. E. Santarelli & H. T. Tran, 2013. "Diversification Strategies and Firm Performance: A Sample Selection Approach," Working Papers wp896, Dipartimento Scienze Economiche, Universita' di Bologna.
    10. Dilmaghani, Maryam, 2021. "The gender gap in competitive chess across countries: Commanding queens in command economies," Journal of Comparative Economics, Elsevier, vol. 49(2), pages 425-441.
    11. Reyna, Debora & Céspedes, Nikita, 2016. "La Oferta Laboral en Perú," Working Papers 2016-017, Banco Central de Reserva del Perú.
    12. Paul Gregg & Lindsey MacMillan & Claudia Vittori, 2014. "Moving Towards Estimating Lifetime Intergenerational Economic Mobility in the UK," The Centre for Market and Public Organisation 14/332, The Centre for Market and Public Organisation, University of Bristol, UK.
    13. Cabral, René & García-Díaz, Rocío & Mollick, André Varella, 2016. "Does globalization affect top income inequality?," Journal of Policy Modeling, Elsevier, vol. 38(5), pages 916-940.
    14. Güzin Bayar, 2018. "Estimating export equations: a survey of the literature," Empirical Economics, Springer, vol. 54(2), pages 629-672, March.
    15. Valentina Raimondi & Margherita Scoppola & Alessandro Olper, 2012. "Preference erosion and the developing countries exports to the EU: a dynamic panel gravity approach," Review of World Economics (Weltwirtschaftliches Archiv), Springer;Institut für Weltwirtschaft (Kiel Institute for the World Economy), vol. 148(4), pages 707-732, December.
    16. Anthony B. Atkinson & Alessandra Casarico & Sarah Voitchovsky, 2018. "Top incomes and the gender divide," The Journal of Economic Inequality, Springer;Society for the Study of Economic Inequality, vol. 16(2), pages 225-256, June.
    17. Sibande, Lonester & Bailey, Alastair & Davidova, Sophia, 2017. "The impact of farm input subsidies on maize marketing in Malawi," Food Policy, Elsevier, vol. 69(C), pages 190-206.
    18. Denisard Alves & Walter Belluzzo, 2005. "Salud y mortalidad infantil en Brasil," Research Department Publications 3188, Inter-American Development Bank, Research Department.
    19. Rae Yule Kim, 2020. "Share of Voice: Findings from the US Automotive Industry," Economics Bulletin, AccessEcon, vol. 40(4), pages 3306-3312.
    20. Damián Tojeiro-Rivero & Rosina Moreno & Erika Badillo, 2016. "“Breakthrough innovations: The impact of foreign acquisition of knowledge"," IREA Working Papers 201614, University of Barcelona, Research Institute of Applied Economics, revised Nov 2016.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:cdl:ucscec:qt1n6957hk. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Lisa Schiff (email available below). General contact details of provider: https://edirc.repec.org/data/ecucsus.html .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.