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Neuronal ceroid lipofuscinosis

Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms

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Abstract

Diagnosis of the neuronal ceroid lipofuscinoses (NCLF), a group of recessively inherited neurolipidoses, must rely on clinical as well as light and electron microscopic histopathologic findings, as a precise biochemical defect has not yet been identified. We have studied the eyes from two patients with the late infantile and juvenile forms of the disease. On electron microscopy, we observed, almost exclusively, inclusions with curvilinear profiles in the late infantile type, while multimembranous and curvilinear bodies were seen in juvenile NCLF. In both forms of the disease, retinal destruction seems to start at the photoreceptor and outer retinal levels and progresses from the macular area to the periphery. Conjunctival biopsy is helpful in the diagnosis of these disorders, as demonstrated in the adult case presented here.

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Authors and Affiliations

  1. Eye Pathology Laboratory, Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltimore, MD, USA

    E. I. Traboulsi, W. R. Green & Z. C. de la Cruz

  2. Department of Pathology, The Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltimore, MD, USA

    E. I. Traboulsi, W. R. Green & Z. C. de la Cruz

  3. University of Texas Health Science Center at Dallas, Dallas, Texas, USA

    M. W. Luckenbach

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  1. E. I. Traboulsi
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  2. W. R. Green
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  3. M. W. Luckenbach
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  4. Z. C. de la Cruz
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Traboulsi, E.I., Green, W.R., Luckenbach, M.W. et al. Neuronal ceroid lipofuscinosis. Graefe’s Arch Clin Exp Ophthalmol 225, 391–402 (1987). https://doi.org/10.1007/BF02334164

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