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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.
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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.
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