May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Electroretinographic and Clinicopathologic Correlations of Retinal Dysfunction in Infantile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease)
R.G. Weleber; N. Gupta; K.M. Trzupek; M.S. Wepner; D.E. Kurz; A.H. Milam
Author Affiliations & Notes
  • R.G. Weleber
    Oregon Retinal Degeneration Center, Casey Eye Institute, Departments of Ophthalmology and Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR
  • N. Gupta
    F.M. Kirby Center for Molecular Ophthalmology and the Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA
  • K.M. Trzupek
    Oregon Retinal Degeneration Center, Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, OR
  • M.S. Wepner
    F.M. Kirby Center for Molecular Ophthalmology and the Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA
  • D.E. Kurz
    Oregon Retinal Degeneration Center, Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, OR
  • A.H. Milam
    F.M. Kirby Center for Molecular Ophthalmology and the Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA
  • Footnotes
    Commercial Relationships  R.G. Weleber, None; N. Gupta, None; K.M. Trzupek, None; M.S. Wepner, None; D.E. Kurz, None; A.H. Milam, None.
  • Footnotes
    Support  Foundation Fighting Blindness, Research to Prevent Blindness
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 3607. doi:
  • Views
  • Share
  • Tools
    • Alerts
      User Alerts
      You are adding an alert for:
      Electroretinographic and Clinicopathologic Correlations of Retinal Dysfunction in Infantile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease)
      You will receive an email whenever this article is corrected, updated, or cited in the literature. You can manage this and all other alerts in My Account
      The alert will be sent to:
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation
      Citation

      R.G. Weleber, N. Gupta, K.M. Trzupek, M.S. Wepner, D.E. Kurz, A.H. Milam; Electroretinographic and Clinicopathologic Correlations of Retinal Dysfunction in Infantile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease) . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3607.

      Download citation file:

      © ARVO (1962-2015); The Authors (2016-present)

      ×
    • Get Permissions
  • Supplements
Abstract

Abstract: : Purpose: To describe the electroretinogram (ERG) and pathophysiologic features of retinal degeneration in infantile neuronal ceroid lipofuscinosis (INCL). Methods: We studied the clinical features and ERG in three patients with INCL and performed histopathologic and immunofluorescence analyses of the retina in the third patient who died at 3 years 2 months of age. Results: The ERGs for the 2 youngest patients (ages 1.7 and 2.3 years) showed normal scotopic bright flash a–wave amplitudes with severe loss of b–wave (the so–called electronegative ERG). The third patient at 2.9 years of age showed subnormal a–wave amplitudes and even greater loss of b–wave amplitudes. Histopathology revealed reduced cell numbers in all retinal layers, including the inner nuclear layer (INL), and a central epiretinal membrane. Autofluorescent lipofuscin granules were present in all neuronal cell types in the retina. Cones and rods in the parafoveal area were labeled with a cone cytoplasmic marker, mAb 7G6, and anti–rhodopsin, respectively, and had extremely short outer segments. The periphery showed better preservation but photoreceptor outer segments were short. Immunofluorescence revealed degenerate rods and cones throughout the retina with better preservation in the periphery. Autofluorescent lipofuscin was found in all cell types, including cone inner segments, to a greater degree than seen in normal ageing. Conclusions: Loss of all retinal layers was evident on histology but there was no greater loss of any identifiable cell type, including bipolar cells and amacrines. The ERG findings indicate dysfunction at or proximal to the photoreceptor inner segments. Together, these studies support the existence, early in the disease, of a relative pre– or post–synaptic block of effective neurotransmission from photoreceptor inner segments to the second order bipolar neurons.

Keywords: electroretinography: clinical • immunohistochemistry • neurotransmitters/neurotransmitter systems 
© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×
This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept