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Congenital Optic Nerve Anomalies

Albert and Jakobiec's Principles and Practice of Ophthalmology

  • 38 Accesses

Abstract

While sensitivity to the perception of “anomalous” disks can be relatively quickly acquired with experience, more essential is recognizing and understanding several specific key distinguishing traits in order to correctly categorize optic disk anomalies and make the appropriate inferences.

Accurate identification of the various congenital optic disk anomalies can lead to a specific targeted screening for associated ocular, neurologic, and systemic diseases. Correlations first appreciated a few decades ago, and others made, thereafter, are reincorporated and understood anew. The accumulated knowledge, reassessed and reorganized, integrating many seemingly disparate findings since the last version of this chapter written in 2008, now brings a newfound order and coherence to the subject of congenital disk anomalies described herein. Such modern perspective with improved understanding allows heretofore-overlooked issues to receive appropriate attention.

Up-to-date knowledge with emphasis placed on understanding key distinguishing features can lead not only to better ocular but also to improved systemic patient care. If a disk cannot be fitted into a known category, it is better to term the disk as simply “dysplastic,” rather than the frequently misappropriated terms of “coloboma,” “atypical coloboma,” or “colobomatous,” which has led to and continues to engender pathogenetic confusion.

Because of the limited penetrance of the near-infrared OCT light beam into the disk laminar tissue, as well as the large range of physiologic variability of optic disks, the utility of OCT in the diagnosis of congenital disk disorder remains somewhat restricted (Jeng-Miller et al., Curr Opin Ophthalmol 28:579–86, 2017). However, OCT may still provide valuable information regarding laminar defects and surrounding retina, particularly when secondary detachments may have occurred (Cennamo et al., Ophthalmology 117(6):1269–73, 2010; Chang et al., Eye (London) 26(4):494–500, 2012; Katome et al., Eye (London) 27(11):1325–6, 2013; Horton and Barkovich, J Neuroophthalmol 37(4):401–2, 2017). Subtle forms of optic nerve hypoplasia may also be more easily identified via OCT than by ophthalmoscopy (Unoki et al., Br J Ophthalmol 86(8):910–4, 2002).

More recently, peripheral or wide-angle fundus imaging, particularly with fluorescein angiography, has also disclosed previously unappreciated peripherally associated abnormalities of the retina (Parsa et al., Ophthalmology 108(4):738–49, 2001; Shapiro et al., Ophthalmology 120(3):607–15, 2013).

Nevertheless, it is the ophthalmoscopic appearance of the optic disk itself, including with the use of the direct ophthalmoscope that provides the highest magnification, that is particularly useful in clinical diagnosis, all the more so for those in the pediatric age group, unable to sit for less portable imaging devices.

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Authors and Affiliations

  1. Quinze-Vingts National Eye Hospital, Sorbonne University, Paris, France

    Cameron F. Parsa

  2. Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium

    Cameron F. Parsa

  3. Storm Eye Institute, Medical University of South Carolina, Charleston, SC, USA

    Edward W. Cheeseman

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  1. Cameron F. Parsa
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  2. Edward W. Cheeseman
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Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Oregon Health & Science University Department of Ophthalmology, Portland, OR, USA

    Daniel Albert

  2. Massachusetts Eye and Ear, Boston, MA, USA

    Joan Miller

  3. Department of Ophthalmology, University of Illinois at Chicago Department of Ophthalmology, Chicago, IL, USA

    Dimitri Azar

  4. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

Section Editor information

  1. No affiliation provided

    Michael F. Chiang MD

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Parsa, C.F., Cheeseman, E.W. (2021). Congenital Optic Nerve Anomalies. In: Albert, D., Miller, J., Azar, D., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-319-90495-5_283-1

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  • DOI: https://doi.org/10.1007/978-3-319-90495-5_283-1

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  1. Latest

    Congenital Optic Nerve Anomalies
    Published:
    27 August 2021

    DOI: https://doi.org/10.1007/978-3-319-90495-5_283-2

  2. Original

    Congenital Optic Nerve Anomalies
    Published:
    28 July 2021

    DOI: https://doi.org/10.1007/978-3-319-90495-5_283-1

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