Zusammenfassung
Die Speicherkrankheiten sind tatsächlich angeborene Lysosomenkrank-heiten. In dieser Gruppe haben wir zu erwähnen: 1. die Sphingolipidosen, 2. die neutralen Lipidosen (Wolman’s Krankheit), 3. die Mukopolysaccharidosen, 4. das Refsumsche Syndrom, 5. die Zystinose, 6. die Glykogenspeicherkrankheit Typ I (von Gierkesche Krankheit) und 7. Urbach-Wiethesche Krankheit.
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Literatur
Berman, E. R.: Biochemical diagnostic tests in genetic and metabolic eye diseases. In: Goldberg, M. F.: Genetic and metabolic eye disease, pp 73–138. Boston: Little, Brown and Cy 1974
Cotlier, E.: Biochemical detection of inborn errors of metabolism affecting the eye. Trans. Amer. Acad. Ophthal. 76, 1165–1192 (1972).
Françoiseschetti, A., François, J., Babel, J.: Les hérédo-dégénérescences chorio-rétiniennes (dégénérescences tapéto-rétiniennes). Ed. Masson, Paris 1963.
Stanbury, J.B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease. New York: McGraw-Hill 1972.
Warburg, M.: Diagnosis of metabolic Eye diseases. Copenhagen: Munksgaard 1972.
Andreani, D.: Su di un caso di malattia di Tay-Sachs con aspetto atipico del fondo oculare. G. Ital. Oftal. 10, 194–201 (1957).
Attal, C., Farkas-Bargeton, E., Edgar, G. W. et al.: Idiotie amaurotique infantile avec surcharge viscérale. Ann. Pédiat. 14, 457–465 (1967).
Baird, H. W., Pileggi, A. J., Harley, R. D.: Funduscopic photography and fluorescein angioretinography in evaluation of children with neurologic handicaps. J. Pediat. 74, 937–945 (1969).
Bamatter, F., Françoiseschetti, A., Klein, D.: Aspects cliniques, ophtalmologiques et génétiques des abiotrophies neuro-rétiniennes en pédiatrie. XVIII Congr. Ass. Péd. Langue Franç., Genève, Basel: Ed. Karger II, 1–120 (1961).
Begaux, C., De Cock, G.: La neuropathologie des abiotrophies, en particulier l’aspect anatomo-pathologique de la rétine dans les idioties amaurotiques. XVIII Cong. Ass. Péd. Langue Franç., Genève, Basel: Ed. Karger II, 200–220 (1961).
Berard, M., Toga, M., Bernard, R., Dubois, D., Mariani, R., Hassoun, J.: Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses. Path. Europ. 3, 172 (1968).
Bernard, R., Orsini, A., Giraud, F., Berard-Badier, M., Mariani, R., Vo-Van, L.: Ostéodystrophie complexe à type de maladie de Hurler. Pédiatrie 21, 365–366 (1966).
Bjelk-hagen, J.: Case of infantile amaurotic idiocy. Acta Paed. 39, 445–451 (1950).
Bonamour, G., Tigaud, J.: Place des symptômes oculaires dans les lipidoses. J. Méd. Lyon 47, 907–913 (1966).
Broekhuyse, R. M.: Clinical aspects of the juvenile forms of lipoidosis. Ophthalmo-logica (Basel) 152, 510–519 (1966).
Callahan, J. W., Pinsky, L., Wolfe, L. S.: GM1-ganglio-sidosis (type II). Studies on a fibroblast cell strain. Biochem. Med. 4, 295 (1970).
Callahan, J. W., Wolfe, L. S.: Isolation and characterization of keratan sulfates from the liver of a patient with GM1-gangliosidosis type I. Biochem. Biophys. Acta 215, 527 (1970).
Cogan, D. G.: Sphingolipidoses. Trans. Ophthal. Soc. U.K. 87, 871–872 (1967).
Cogan, D. G., Federman, D. D.: Retinal involvement with reticulo endotheliosis of unclassified type. Arch. Ophthal., Chicago 71, 489–491 (1964).
Cogan, D. G., Kuwabara, T.: Histochemistry of the retina in Tay-Sachs disease. Arch. Ophthal., Chicago 61, 414–423 (1959).
Cogan, D. G., Kuwabara, T.: The sphingolipidoses and the eye. Arch. Ophthal. Chicago 79, 437–452 (1968).
Collins, Tr.: The infantile form of amaurotic family idiocy (Tay-Sachs’ disease). Trans. Med. Chir. Soc. Edinb. 80, 102 (1897).
Cotlier, E.: Tay-Sachs’ retina. Deficiency of acetyl hexosaminidase A. Arch. Ophthal., Chicago 86, 352–356 (1971).
Dacremont, G., Kint, J. A.: GM1-rganglioside accumulation and β-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease). Clin. Chem. Acta 21, 421 (1968).
Danes, B. S., Bearn, A. G.: Metachromasia and skin-fibroblast cultures in juvenile familial amaurotic idiocy. Lancet 2, 855 (1968).
Derry, D. M., Fawcett, J. S., Andermann, F., Wolfe, L. S.: Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types. Neurology, Minneap. 18, 340 (1968).
Dhermy, P.: Etude histologique de la rétine au cours de la maladie de Tay-Sachs. Bull. Soc. Ophtal., Françoise 62, 41–45 (1962).
Dhermy, P.: Persönliche Mitteilung, 1973.
Emery, J. M., Green, W. R., Wyllie, R. G.: GM1-gangliosidosis. Ocular and pathological manifestations. Arch. Ophthal., Chicago 85, 177–187 (1971).
Françoiseschetti, A., Dieterle, P.: Ricerche elettro-retinografiche nelle degenerazioni tapeto-retiniche. Atti Soc. Oftal. Ital. 41, 204–213 (1955).
Françoiseschetti, A., Dieterle, P.: Die differential-diagnostische Bedeutung des Elektroretinogramms bei tapeto-retinalen Degenerationen. Ophthalmolo-gica 48, 161–182 (1957).
Françoiseschetti, A., Klein, D., Babel, J.: Les manifestations oculaires des troubles primitifs du métabolisme des lipides. Etude clinique, génétique et anatomo-pathologique. Congr. Intern. ONO, Sao Paulo, 1954, Arq. Neuro-Psiq. 13, 69–160 (1955).
Françoiseschetti, A., Wildi, E., Klein, D.: Examen anatomo-clinique d’un cas d’idiotie amaurotique infantile (Tay Sachs). Acta Genet. Statist. 5, 343–357 (1955).
François, J., Verriest, G., De Rouck, A.: Les fonctions visuelles dans les dégénérescences tapéto-rétiniennes. Bibl. Ophthal. Ed. Karger, Basel 43, 1956.
Friedland, J., Schneck, L., Saifer, A., Pourfar, M., Volk, B. W.: Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. Clin. Chim. Acta 28, 397 (1970).
Ghetti, B., Guazzi, G. C., De Masi, R. V., Cecio, A.: Epilessia mioclonica giovanile con macchia rosso ciliegia al fondo dell’occhio. II Studio istologico ed ultrastructurale della biopsia epatica. Acta Neurol. 25, 252–260 (1970).
Gigonnet, J. M.: A propos d’une observation d’idiotie amaurotique infantile avec atteinte viscérale. Paris: Thesis 1865.
Goebel, H. H., Fix, J. D., Zeman, W.: Retinal pathology in GM1 gangliosidosis type II. Amer. J. Ophthal. 75, 434–441 (1973).
Gonatas, N. K., Gonatas, J.: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J. Neuropath. Exp. Neurol. 24, 318–340 (1965).
Gruner, J. E., Foncin, J. F.: Pathologie des spingolipidoses et mucopolysaccharidoses. XXII Congr. Ass. Pédiatres Langue Française. Expansion Scientifique Française, Paris 3, 218–258 (1969).
Guazzi, G. C., Ghetti, B., Bertolino, A., Fiore, C., Del Vecchio, M., Striano, S.: Epilessia mioclonica giovanile con macchia rosso ciliegia al fondo dell’occhio. I. Studio genetico e clinico. Folia Neuropsychiat. 11, 737–758 (1968).
Harcourt, R. B., Dobbs, R. H.: Ultrastructure of the retina in Tay-Sachs’ disease. Brit. J. Ophthal. 52, 898–902 (1968).
Hers, H. G., van Hoof, F.: Etudes enzymatiques dans les mucopolysaccharidoses et les sphingolipidoses. XXII Congr. Ass. Pédiatres Langue Française. Expansion Scientifique Française, Paris 3, 181–190 (1969).
Hooft, C., Senesael, L., Delbeke, M. J., Kint, J., Dacremont, G.: The GM1-gangliosidosis (Landing disease). Europ. Neurol. 2, 225–241 (1969).
Hooft, C., Vlietinck, R. F., Dacremont, G., Kint, J. A.: GM1-gangliosidosis type II. Europ. Neurol. 4, 1–21 (1970).
Juif, J. G., Gigonnet, J. M., Berland, H., Ruff, R.: Aspects cliniques et biologiques des sphingolipidoses. XXII Congr. Ass. Pédiatres Langue Française. Expansion Scientifique Française, Paris 3, 43–137 (1969).
Kint, J. A., Dacremont, G., Vlietinck, R.: Type II GM1-gangliosidosis. Lancet 2, 108 (1969).
Klein, D., Hussels, I.: Une famille atteinte d’idiotie amaurotique juvénile (Vogt-Spielmeyer). Detection des porteurs hétérozygotes. J. Génét. hum. 16, 226–230 (1967).
Lamy, M., Frezal, J., Maroteaux, P.: Génétique des sphingolipidoses. XXII Congr. Ass. Pédiatres Langue Française. Expansion Scientifique Française, Paris 3, 191–216 (1969).
Landing, B. H., Silverman, F. N., Craig, J. M., Jacoby, M. D., Lahey, M. E., Chadwick, D. L.: Familial neuro-visceral lipidosis: an analysis of eight cases of a syndrome previously reported as “Hurler-variant”, “Pseudo-Hurler disease” and “Tay-Sachs disease with visceral involvement”. Amer. J. Dis. Child. 108, 503–522 (1964).
Larsen, H. W., Ehlers, N.: Ocular manifestations in Tay-Sachs’ and Niemann-Pick’s diseases. A clinical, pathological, histochemical and biochemical investigation. Acta Ophthal., Kbh. 43, 285–293 (1965).
Lods, F., Manassero, J., Vaillaud, J. C., Kerma-rec, J., Duplay, H.: Lésions oculaires dans la gangliosidose généralisée de type Gm1 (maladie de Landing). Bull. Soc. François. Ophtal. 82, 479–490 (1969).
Manschot, W. A.: Retinal histology in amaurotic idiocies and tapeto-retinal degenerations. Ophthalmologica, Basel 156, 28–37 (1968).
Matsusaka, T.: The inclusion and the intermitochondrial bridge appearing in the retinal arterioles in a case of juvenile amaurotic family idiocy (Spielmeyer-Vogt). Jap. J. Ophthal. 9, 115–123 (1965).
Morra, M.: Contributo genetico a due casi di idiozia amaurotica infantile. Atti Soc. Oftal. Lombarda 21, 99–107 (1966).
Navon, R., Padeh, B.: Prenatal diagnosis of Tay-Sachs genotypes. Brit. Med. J. 4, 17 (1971).
Nordlöw, W.: A case of infantile amaurotic family idiocy with fundus changes of the eye as primary symptom. Acta Ophthal., Kbh. 24, 177–181 (1946).
Norman, R. M., Urich, H., Tingey, A. H.: Tay-Sachs disease with visceral involvement and its relationship to Niemann-Pick’s disease. J. Path. Bact. 78, 409–421 (1959).
Norn, M. S.: Vacuolated lymphocytes in the conjunctival fluid in juvenile amaurotic idiocy (Spielmeyer-Vogt’s lipoidosis). Acta Ophthal., Kbh. 42, 50–54 (1964).
O’Brien, J. S.: Generalized gangliosidosis. J. Pediat. 75, 167–186 (1969).
O’Brien, J. S.: Ganglioside-storage disease. New Engl. J. Med. 284, 893 (1971).
O’Brien, J. S.: GM1-gangliosidoses. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease. 3rd ed., p. 639. New York: McGraw-Hill 1972.
O’Brien, J. S.: Ganglioside-storage diseases. Adv. Hum. Genet. New York: Plenum Press 1972.
O’Brien, J. S., Okada, S., Chen, A.: Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. New Engl. J. Med. 283, 15 (1970).
O’Brien, J. S., Okada, S., Ho, M. W., Fillerup, D. L., Veath, M. L., Adams, K.: Ganglioside storage disease. Fed. Proc. 30, 956 (1971).
O’Brien, J. S., Stern, M. D., Landing, B. H.: Generalized gangliosidosis. Amer. J. Dis. Child. 109, 338–346 (1965).
Okada, S., O’Brien, J. S.: Generalized gangliosidosis. Betagalactosidase deficiency. Science 160, 1002–1004 (1968).
Okada, S., O’Brien, J. S.: Tay-Sachs disease. Generalized absence of a beta-D-N-acetyl-hexosaminidase component. Science 165 698 (1969).
Okada, S., Veath, M. L., Leroy, J., O’Brien, J. S.: Ganglioside Gm2 storage diseases. Hexosaminidase deficiencies in cultured fibroblasts. Amer. J. Hum. Genet. 23, 55 (1971).
Okada, S., Veath, M. L., O’Brien, J. S.: Juvenile GM2-gangliosidosis. Partial deficiency of hexosaminidase A. J. Pediat. 77, 1063 (1970).
Padeh, B., Navon, R.: Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Israel J. Med. Sci. 7, 259 (1971).
Palomar-Petit, F., Bacci, F., Loizaga, J. M.: Idiocia familiar amaurotica. Arch. Soc. Oftal. Hisp.-Amer. 26, 265–298 (1966).
Philippart, M.: Etude biochimique des sphingolipidoses et des mucopolysaccharidoses. XXII Congr. Ass. Pédiatres Langue Française. Expansion Scientifique Française, Paris 3, 5–41 (1969).
Rajkovits, K., Sebestyen, J., Strenger, J.: Neuere Angaben zur Histochemie der Augenveränderungen bei der Tay-Sachsschen Krankheit. Graefes Arch. Ophthal. 167, 329–335 (1964).
Sacrez, R., Juif, J. G., Gigonnet, J. M. et al.: La maladie de Landing ou idiotie amaurotique infantile précoce avec gangliosidose généralisée de type GM1 Pédiatrie 22, 143–162 (1967).
Sachs, B.: On arrested cerebral development with special reference to its cortical pathology. J. Nerv. Ment. Dis. 15, 541–553 (1887).
Sacrez, R., Juif, J. G., Gigonnet, J. M., Gruner, J. E.: La maladie de Landing ou idiotie amaurotique infantile précoce avec gangliosidose généralisée de type GM1. Pédiatrie 22, 143–162 (1967).
Sandhoff, K., Andreas, U., Jatzkewitz, H.: Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sciences 7, 283 (1968).
Schachter, M.: Deux observations cliniques d’idiotie avec amaurose. Rapports pathogéniques avec l’idiotie amaurotique de Tay-Sachs. Z. Kinderpsychiat. 13, 180–188 (1947).
Schneck, L., Friedland, J., Valenti, C., Adachi, M., Amsterdam, D., Volk, B. W.: Prenatal diagnosis of Tay-Sachs disease. Lancet 1, 582 (1970).
Schneck, L., Wallace, B. J., Saifer, A., Volk, B. W.: A clinical biochemical and electron microscopic study of late infantile amaurotic family idiocy. Amer. J. Med. 39, 285 (1965).
Scott, C. R., Lagunoff, D., Trump, B. F.: Familial neurovisceral lipidosis. J. Pediat. 71, 357 (1967).
Sebestyen, J., Galfi, L: Retinal functions in Niemann-Pick lipidosis. Ophthalmological aspects of the chronic form of sphingomyelin lipidosis. Ophthalmologica, Basel 157, 349–356 (1969).
Seringe, P., Plainfosse, B., Laut-mann, F., Lorilloux, J., Galamy, F., Berry, J. P., Waichi, J. M.: Gangliosidose généralisée du type Norman-Landing a GM1. Etude à propos d’un cas diagnostiqué du vivant du malade. Sem. Hôpitaux Paris 44, 685–704 (1968).
Seringe, P., Dhermy, P., Aron, J. J.: Etude anatomo-clinique des lésions oculaires dues à la gangliosidose du type Norman-Landing à GM1. Ann. Paediat. 12, 748 (1969).
Seringe, Ph., Dhermy, P., Aron, J. J.: Les manifestations oculaires de la gangliosidose généralisée à GM1 (maladie de Norman-Landing). Arch. Ophtal., Paris 30, 113–128 (1970).
Sloan, H. R., Fredrickson, D. S.: Gm2-Gangliosidoses: Tay-Sachs disease. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease, 3rd ed., p. 615. New York: McGraw-Hill 1972.
Suzuki, K.: Cerebral GM1 gangliosidosis. Chemical pathology of visceral organs. Science 159, 1471–1472 (1968).
Suzuki, K., Suzuki, K., Chen, G. C.: Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis). J. Neuropath. Exp. Neurol. 27, 15 (1968).
Suzuki, K., Suzuki, K., Kamishita, S.: Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis). J. Neuropath. Exp. Neurol. 28, 25–73 (1969).
Suzuki, K., Suzuki, K., Rapin, L, Suzuki, Y., Ishi, N.: Juvenile GM2-gangliosidosis. Neurology 20, 190 (1970).
Suzuki, Y., Berman, P. H., Suzuki, K.: Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes. J. Pediat. 78, 643 (1971).
Suzuki, Y., Jacob, J. C., Suzuki, K., Kutty, K. M., Suzuki, K.: GM2-gangliosidosis with total hexosaminidase deficiency. Neurology 21, 313 (1971).
Suzuki, Y., Suzuki, K.: Partial deficiency of hexosaminidase component A in juvenile Gm2-gangliosidosis. Neurology 20, 848 (1970).
Tay, W.: Symmetrical changes in the region of the yellow spot in each eye of an infant. Trans. Ophthal. Soc. U.K. 1, 55–57 (1881).
Tittarelli, R., Giagheddu, M., Spadetta, V.: Typical ophthalmoscopic picture “cherry-red spot” in an adult with the myoclonic syndrome. Brit. J. Ophthal. 50, 414–420 (1966).
Van den Heuvel, J. E. A.: Juvenile lipoidosis. Ophthalmologica, Basel 152, 507–509 (1966).
Van Hoof, F., Hers, H. G.: The abnormalities of lysosomal enzymes in mucopolysaccharidoses. Europ. J. Biochem. 7, 34–44 (1968).
Watson, A. G., Gransden, G. M.: Juvenile familial amaurotic idiocy. Trans. Canad. Ophthal. Soc. 26, 5–8 (1963).
Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., Scriver, C. R.: GM1-gangliosidosis without chondrodystrophy or visceromegaly. Beta-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate. Neurology 20, 33–44 (1970).
Wolter, J. R., Allen, R. J.: Retinal neuro-pathology of late infantile amaurotic idiocy. Brit. J. Ophthal. 48, 277–284 (1964).
Zeman, W.: What is amaurotic idiocy? Lipids 4, 76–77 (1969).
Anderson, B., Margolis, G., Lynn, W. S.: Ocular lesions related to disturbances in fat metabolism. Amer. J. Ophthal. 45, April, part II, 23–41 (1958).
Bartsch, G. G.: Glycolipid abnormalities in a myoclonic variant of late infantile amaurotic idiocy. J. Lipid Res. 11, 241 (1970).
Batten, F. E.: Cerebral degeneration with symmetrical changes in the macula in two members of a family. Trans. Ophthal. Soc. U.K. 23, 386–390 (1903).
Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W.: A dominant form of neuronal ceroid-lipofuscinosis. Brain 94, 745 (1971).
Copenhaver, R. M., Goodman, G.: The electroretinogram in infantile, late infantile and juvenile amaurotic family idiocy. Arch. Ophthal., Chicago 63, 559–566 (1960).
Danis, P., Begaux, C., Decock, G.: Bases ophtalmologiques d’une classification des idioties amaurotiques. J. Génét. Hum. 6, 91–155 (1957).
Donahue, S., Watanabe, I., Zeman, W.: Morphology of leukocytic hypergranulation in Batten’s disease. Ann. N.Y. Acad. Sci. 155, 847 (1968).
Dureux, J. B.: L’électro-encéphalogramme au cours des dégénérescences tapéto-rétiniennes. Thesis, Nancy (1956).
Elfenbein, I. B., Cantor, H. E.: Late infantile amaurotic idiocy with multilamellar cytosomes. An electron microscopic study. J. Pediat. 75, 253–264 (1969).
Françoiseschetti, A., François, J., Babel, J.: Les hérédo-dégénérescences choriorétiniennes. Paris: Ed. Masson 1963.
François, J., de Rouck, A.: L’intérêt de l’électro-rétino-encéphalographie dans le diagnostic différentiel des dégénérescences tapéto-rétiniennes. Ann. Oculistique 191, 256–285 (1958).
Gonatas, N. K., Gambetti, P., Tucker, S. H., Evangelista, I., Baird, H. W.: Cytoplasmic inclusions in juvenile amaurotic idiocy. J. Pediat. 75, 796 (1969).
Greenfield, J. G.: The retina in cerebro-spinal lipidosis. Proc. Roy. Soc. Med. 44, 686–689 (1951).
Gusev, I. A.: Primary systemic lipoidosis (in Russian). Vestn. Oftal. 78, 26–28 (1965).
Haberland, C., Brunngraber, E. R., Witting, L. A., Hof, H.: Late infantile amaurotic idiocy. Neurology 22, 305 (1972).
Hagberg, B., Sourander, P., Svennerholm, L.: Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism, Acta paediat. Scand. 57, 495–499 (1968).
Haltia, M., Rapola, J., Santavuori, P., Keränen, A.: Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 2. Morphological and biochemical studies. J. Neurol. Sciences 18, 269–285 (1973).
Hellström, B., Ivemark, B., Zetterström, B.: Atypical cerebro-macular degeneration. Nord. Med. 60, 1782–1784 (1958).
Ichikawa, K.: Über eine der familiären amaurotischen Idiotie verwandte Krankheit mit histologischer Beschreibung. Klin. Mbl. Augenheilk. 47, I, 73–82 (1909).
Jansky, J.: Über einen noch nicht beschriebenen Fall der familiären amaurotischen Idiotie mit Hypoplasie des Kleinhirns. Z. Erforschg. Jugendl. Schwachsinns 3, 86 (1910).
Jervois, G. A.: Familial idiocy due to neuronal lipidosis (so-called late amaurotic idiocy). Amer. J. Psychiat. 107, 409–414 (1950).
Kufs, H.: Über eine Spätform der amaurotischen Idiotie und ihre heredofamiliären Grundlagen. Z. Ges. Neurol.-Psychiat. 95, 169–188 (1925).
Lehovsky, M.: The help of electroencephalography in the diagnosis of Bielschowsky-Jansky type of familiar amaurotic idiocy. Cs. Pediat. 26, 371–375 (1971).
Levine, A. S., Lemieux, B., Brunning, R., White, J. G., Sharp, H. L., Harvey, L., Standlan E., Krivit, W.: Ceroid accumulation in a patient with progressive neurological disease. Pediatrics 42, 483–491 (1968).
Menkes, J. H., Andrews, J. M., Cancilla, P. A.: The cerebroretinal degenerations. J. Pediat. 79, 183–196 (1971).
Merritt, A. D., Smith, S. A., Strouth, J. C., Zeman, W.: Detection of heterozygotes in Batten’s disease. Ann. N.Y. Acad. Sci. 155, 860 (1968).
Pampligione, G., Lehovsky, M.: The evolution of EEG features in Tay-Sachs disease and amaurotic family idiocy in 24 children. In: Kellaway, P., Petersen, J. (Eds). Clinical electroencephalography of children, pp. 287–306. Stockholm: Almqvist and Wieksell 1968.
Plum, C. M., Teglbjaerg, H. P. S.: Juvenile amaurotic idiocy: vacuolisation of lymphocytes. Ann. Paed. Fenn. 6, 16–20 (1960).
Rayner, S.: Juvenile amaurotic idiocy with particular reference to the occurrence of vacuoles in the lymphocytes of homo- and heterozygotes. Instit. Med. Genet. Uppsala, pp. 107 (1962).
Richter, R., Parmelee, A.: Late infantile amaurotic idiocy with marked cerebral atrophy. Clinical and anatomic report of a case. Amer. J. Dis. Child. 50, 111–131 (1935).
Roizin, L., Slade, W., Hermida, H., Asao, H.: Comparative histologic, histochemical and electron microscope studies of rectal biopsy in a case of adult hereditary cerebromacular degeneration. In: Aronson, S. M., Volk, B. W.: Cerebral sphingolipidoses, pp. 57–72. London: Acad. Press 1962.
Rouser, G., Wade, R. R.: Amaurotic idiocy. Lipids 4, 176 (1969).
Ryan, G. B., Anderson, R. Mc D., Menkes, J. H., Dennett, X.: Lipofuscin (ceroid) storage disease of the brain. Neuropathological and neurochemical studies. Brain 93, 617–628 (1970).
Santavuori, P., Haltia, M., Rapola, J., Raitta, C.: Infantile type of so-called neuronal ceroidlipofuscinosis. Part I. A clinical study of 15 patients. J. Neurol. Sciences 18, 257–267 (1973).
Seitelberger, F.: Eine unbekannte Form von infantiler Lipoidspeicherkrankheit des Gehirns. Proc. I. Congr. Intern. Neuro-Pathol., Roma 3, 823–833 (1952).
Seitelberger, F., Voegel, G., Stepan, H.: Spätinfantileamaurotische Idiotie. Arch. f. Psychiat. u. Nervenkr. 196, 154–190 (1957).
Spielmeyer, W.: Weitere Mitteilung über eine besondere Form von familiärer amaurotischer Idiotie. Neurol. Zbl. 24, 1131–1132 (1905).
Stock, W.: Über eine bis jetzt noch nicht beschriebene Form der familiär auftretenden Netzhautdegeneration bei gleichzeitiger Verblödung und über typische Pigmentdegeneration der Netzhaut. Klin. Mbl. Augen-heilk. 46, I, 225–244 (1908).
Stock, W.: Über rasch verlaufende Pigmentdegeneration der Netzhaut mit Verblödung. Ber. Dtsch. Ophthal. Ges. 51, 106–109 (1936).
Tamura, O., Matsubara, M., Nagayama, A.: A case of the Vogt-Spielmeyer disease with ophthalmoscopic findings of Tay-Sachs’s disease. Folia Ophthal. Jap. 19, 185–189 (1968).
Thiel, H. J.: Zur Differentialdiagnose der familiären amaurotischen Idiotie. Ber. Dtsch. Ophthal. Ges. 69, 72–76 (1968).
Tingey, A. H., Norman, R. M., Urich, H., Beasley, W. H.: Chemical and pathological findings in a case of late infantile amaurotic family idiocy of the Batten type. J. Ment. Sci. 104, 91–102 (1958).
Tittarelli, R., Giagheddu, M., Spadetta, V.: Reperto oftalmoscopicotipicodimalattia di Tay-Sachs in soggetto adulto con sindrome mioclonica. Riv. Oto-Neuro-Oftal. 38, 610–616 (1963).
Tokunaga, T., Kawabe, Y.: Histopathology of juvenile amaurotic familial idiocy (Vogt-Spielmeyer). Folia Ophthal. Jap., 19, 1009–1012 (1968).
Van Bogaert, L.: Evolution de nos connaissances sur les neurolipidoses dites phosphatidiques. Bull. Acad. Roy. Méd. Belgique 18, 9–47 (1953).
Vogt, H.: Über familiäre amaurotische Idiotie und verwandte Krankheitsbilder. Mtschr. J. Psychiat. Neurol. 18, 161–171, 310–357 (1905).
Witzleben, C. L., Smith, K., Nelson, J. S., Monteleone, P. L., Livingston, D.: Ultrastructural studies in late-onset amaurotic idiocy: lymphocyte inclusions as a diagnostic marker. J. Pediat. 79, 285 (1971).
Wyburn-Mason, R.: On some anomalous forms of amaurotic idiocy and their bearing on the relationship of the various types. Brit. J. Ophthal. 27, 145–173, 193–207 (1943).
Zeman, W., Dijken, P.: Neuronal ceroidlipofuscinosis (Batten’s disease). Relationship to amaurotic family idiocy. Pediatrics 44, 570 (1969).
Zeman, W., Donahue, S., Dyken, P., Green, J.: The neuronal ceroid lipofuscinoses (Batten-Vogt syndrome). In: Vinken, P. J., Bruyn, G. W. (Eds.): Handbook of Clinical Neurology, 10, 588–679. Amsterdam: North Holland Publishing Cy (1970).
Brady, R. O., Johnson, W. G., Uhlendorf, B. W.: Identification of heterozygous carriers of lipid storage diseases. Amer. J. Med. 51, 423 (1971).
Cogan, D. G., Kuwabara, T.: The sphingo lipidoses and the eye. Arch. Ophthal., Chicago 79, 437 (1968).
Crocker, A. C., Farber, S.: Niemann-Pick disease, a review of 18 patients. Med., Baltimore 37, 1–95 (1958).
Didion, H.: Vergleichende histologische Untersuchungen an einem Zwillingspaar mit Niemann-Pickscher Krankheit. Frankf. Z. Path. 60, 194–227 (1949).
Didion, H.: Die anatomischen Veränderungen des Augenhintergrundes bei der Niemann-Pickschen Krankheit. Klin. Mbl. Augenheilk. 116, 131–135 (1950).
Dusendschön, A.: Deux cas familiaux de maladie de Niemann-Pick chez l’adulte. Thesis, Geneva 1946.
Epstein, C. J., Brady, R. O., Schneider, E. L., Bradley, R. M., Shapiro, D.: In uterodiagnosis of Niemann-Pick disease. Amer. J. Hum. Gen. 23, 533 (1971).
Fredrickson, D. S., Sloan, H. R.: Sphingomyelin lipidoses: Niemann-Pick disease. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S. (Eds.): The metabolic basis of inherited disease, p. 783. New York: McGraw-Hill 1972.
Goldstein, I., Wexler, D.: Niemann-Pick’s disease with cherry-red spots in the macula. Arch. Ophthal., Chicago 5, 704–716 (1931).
Kamoshita, S., Aaron, A. M., Suzuki, K., Suzuki, K.: Infantile Niemann-Pick disease. Amer. J. Dis. Child. 117, 379 (1969).
Klenk, E.: Über die ungesättigten Fettsäuren der ätherlöslichen Phosphatide des Gehirns. Ztschr. physiol. Chem. 206, 25–40 (1932).
Klenk, E.: Über die Natur der Phosphatide der Milz bei der Niemann-Pickschen Krankheit. Ztschr. physiol. Chem. 229, 151–156 (1934).
Knewitz, K.: Beitrag zur Frage der Augenerscheinungen bei der Niemann-Pickschen Krankheit. Thesis, Königsberg 1938.
Larsen, H. W., Ehlers, N.: Ocular manifestations in Tay-Sachs’ and Niemann-Pick’s diseases. A clinical, pathological, histochemical and biochemical investigation. Acta Ophthal., Kbh. 43, 285–293 (1965).
Lou, H. O. C., Paerregaard, P.: Niemann-Pick’s disease. A clinical and biochemical study. Dan. Med. Bull. 14, 62–67 (1967).
Malatesta, C: Contributo alia conoscenza delle manifestazioni oculari nel morbo di Niemann-Pick. Boll. Oculist. 33, 368 (1954).
Niemann, A.: Ein unbekanntes Krankheitsbild. Jahrb. f. Kinderheilk. 29, 1–10 (1914).
Pick, L.: Zur pathologischen Anatomie des Morbus Gaucher. Med. Klin. 18, 1408 bis 1409 (1922).
Rabinowicz, T., Klein, D., Tchicaloff, M.: Juvenile form of Niemann-Pick disease. Pathol. Europ. 3, 154 (1968).
Rintelen, F.: Die Histopathologie der Augenhintergrundsveränderungen bei Niemann-Pickscher Lipoidose, zugleich ein Beitrag zur Frage der Beziehungen zwischen Tay-Sachsscher Idiotie und Niemann-Pickscher Lipoidose. Arch. Augenheilk. 109, 332–345 (1935).
Rothstein, J. L., Welt, S.: Infantile amaurotic family idiocy. Its relation to Niemann-Pick disease and other disturbances of lipoid metabolism. Report of two cases of Tay-Sachs disease with necropsy. Amer. J. Dis. Child. 62, 801–843 (1941).
Sebestyen, J., Galfi, I.: Retinal functions in Niemann-Pick lipidosis. Ophthalmological aspects of the chronic form of sphingomyelin lipidosis. Ophthalmologica, Basel 157, 349–356 (1969).
Sloan, H. R., Uhlendorf, B. W., Kanfer, J. N., Brady, R. O., Fredrickson, D.S.: Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem. Biophys. Res. Comm. 34, 582 (1969).
Tchicaloff, M.: L’atteinte neuro-ophtalmologique dans deux cas de dyslipidose. Rev. Oto-Neuro-Ophtal. 41, 401 (1969).
Terry, R. D., Sperry, W. M., Brodoff, B.: Adult lipidoses resembling Niemann-Pick’s disease. Amer. J. Path. 30, 263–285 (1954).
Van Bogaert, L., Klein, D.: Observations sur l’hérédité des idioties amaurotiques et la spléno-hépatomégalie lipidienne (11 familles). J. Génét. Hum. 4, 23–78 (1955).
Videbäck, A.: Niemann-Pick’s disease. Acute and chronic type. Acta Paediat. 37, 95–116 (1959).
Brady, R. O., Kanfer, J. N., Shapiro, D.: Metabolism of glucocerebrosides. II Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem. Biophys. Res. Commun. 18, 221 (1965).
Brill, N. E.: Primary splenomegaly. Amer. J. Med. 121, 377 (1901).
Carbone, A. O., Petrozzi, C. F.: Gaucher’s disease. Henry Ford Hosp. Med. J. 16, 55–60 (1968).
Collier, M.: Dégénérescence maculaire d’un type spécial dans un cas de maladie de Gaucher. Bull. Soc. Ophtal. Françoise 61, 497–500 (1961).
Crocker, A. C., Landing, B. H.: Phosphatase studies in Gaucher’s disease. Metabolism 9, 341 (1960).
East, T., Savin, L. H.: A case of Gaucher’s disease with biopsy of the typical Pingueculae. Brit. J. Ophthal. 24, 611–613 (1940).
Eyb, C.: Augenhintergrundveränderungen bei der kindlichen Gaucherschen Erkrankung. Wien. Klin. Wschr. 64, 38 (1952).
Ford, F. R.: Diseases of the nervous system in infancy, childhood and adolescence. 4th ed. Springfield: Ed. Thomas 1960.
Gaucher, P. C. E.: De l’épithéliome primitif de la rate. Thesis, Paris 1882.
Giampalmo, A.: Gaucher’s disease in children with special reference to neurological aspects. Acta Paediat. 37, 6–48 (1949).
Hsia, D. Y., Naylor, J., Bigler, J. A.: The genetic mechanism of Gaucher’s disease. In: Aronson, S. M., Volk, B. W.: Cerebral sphingolipidoses, p. 327. New York: Ed. Academic Press 1962.
Lieb, H.: Cerebroidspeicherung bei Splenomegalie Typus Gaucher. I. Mitteilung. Hoppe-Seyler’s Z. Physiol. Chem. 140, 305–313 (1924).
MacNee, J. W.: Textbook of the practice of Medicine. Ed. F. W. Price, p. 841, 1937.
Petrohelos, M., Tricoulis, D., Kotsiras, I., Vouzoukos, A.: Ocular Manifestations of Gaucher’s Disease. Bull. Soc. Hellen. Ophtal. 38, 49–54 (1970).
Redslob, E., Gery, L.: Localisations oculaires de la maladie de Gaucher. Ann. Oculistique 169, 865–875 (1932).
Ruppaner, E.: Zur Kasuistik des Morbus Gaucher. Schweiz. Med. Wschr. 70, 584–587 (1940).
Thannhauser, S. J.: Lipidoses. Ed. Oxford Univ. Press, 1950.
Walsh, F. B.: Clinical Neuro-Ophthalmology. Gaucher’s disease. 2nd Ed. 716–717. Baltimore: Williams and Wilkins 1957.
Allen, R. J., McCusker, J. J., Tourtelotte, W. W.: Metachromatic leukodystrophy. Clinical, histochemical, and cerebrospinal fluid abnormalities. Pediatrics 30, 629–638 (1962)
Austin, J. H.: Metachromatic form of diffuse cerebral sclerosis. I. Diagnosis during life by urine sediment examination. Neurology, Minneap. 7, 415–426 (1957).
Austin, J., Armstrong, D., Shearer, L.: Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity. A controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy. Arch. Neurol., Chicago 13, 593–614 (1965).
Bass, N. H., Witmer, E. J., Dreifus, F. E.: A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state. Neurology 20, 52 (1970).
Bischel, M., Austin, J., Kemeny, M.: Metachromatic leukodystrophy. VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues. Arch. Neurol. 15, 13 (1966).
Böhringer, H. R., Bischoff, A.: Über ein familiäres Syndrom mit degenerativer diffuser Sklerose (Typus Pelizaeus-Merzbacher), tapeto-retinaler Degeneration und Zwergwuchs. Ophthalmologica, Basel 137, 147–154 (1959).
Camp, C. D., Lowenberg, K.: An american family with Pelizaeus-Merzbacher disease. Arch. Neurol. Psychiat. 45, 261 (1941).
Cogan, D. G., Kuwabara, T., Richardson, E. P., Lyon, G.: Histochemistry of the eye in metachromatic leukoencephalopathy. Arch. Ophthal., Chicago 60, 397–402 (1958).
Cogan, D. G., Kuwabara, T., Moser, H.: Metachromatic Leucodystrophy. Ophthalmologica, Basel 160, 2–17 (1970).
Greenfield, J. G.: A form of progressive cerebral sclerosis in infants associated with primary degeneration of the interfascicular glia. J. Neurol. Psychopath. 13, 289–302 (1933).
Hackett, P. N., Hackett, R. J., Bray, P. F., Madsen, J. A.: Chemical detection of metachromatic leukodystrophy in disease and carrier states. Amer. J. Dis. Child. 122, 223 (1971).
Hammami, H., Daicker, B., Streiff, E. B., Rabinowicz, T., Campiche, M., Wiesmann, U., Herschkowitz, N.: Leucodystrophie métachromatique (maladie de Scholz-Greenfield) associée à un syndrome de Lowe avec glaucome congénital sans agrandissement des globes oculaires. Bull. Soc. François. Ophtal. 86, 106–125 (1973)
Kaback, M. M., Howell, R. R.: Infantile metachromatic leukodystrophy. Heterozygote detection in skin fibroblasts and possible applications to intrauterine diagnosis. New Engl. J. Med. 282, 1335 (1970).
Kaback, M. M., Leonard, C. O., Parmley, T. H.: Intrauterine diagnosis. Comparative enzymology of cells cultivated from maternal skin, fetal skin and amniotic fluid cells. Pediat. Res. 5, 366 (1971).
Krabbe, K.: A new familial infantile form of diffuse brain sclerosis. Brain 39, 74–114 (1916).
Legein, C. P., Henkes, H. E., van Balen, A. T. M.: Examination under general anesthesia of children with defective vision. XI Iscerg Symp., Bad Nauheim, 1973 (in press).
Lyon, G., Arthuis, M., Thieffry, S.: Leucodystrophie métachromatique infantile familiale. Etude de deux observations dont une avec examen anatomique et chimique, avec la collaboration de M. Lees. Rev. Neurol. 104, 508–532 (1961).
Mehl, E., Jatzkewitz, H.: Evidence for the genetic block in metachromatic leucodystrophy. Biochem. Biophys. Res. Commun. 19, 407–411 (1964).
Merzbacher, L.: Über eine eigenartige familiäre Erkrankung des Zentralnervensystems. Neurol. Zbl. 26, 1139 (1907).
Moose, A., Dubowitz, V.: Late infantile metachromatic leukodystrophy. Arch. Dis. Childh. 46, 381 (1971).
Moser, H. W.: Sulfatide lipidosis. Metachromatic leukodystrophy. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease, 3rd. ed, p. 688. New York: McGraw-Hill 1972.
Nisenbaum, D., Sandbank, U., Kohn, R.: Pelizaeus-Merzbacher disease “infantile acute type”. Report of a family. Ann. Paediat. 204, 365 (1965).
Nover, A., v.: Über Netzhautveränderungen bei Schilderscher Enzephalitis. Klin. Mbl. Augenheilk. 127, 294–302 (1955).
Pelizaeus, F.: Über eine eigentümliche Form spastischer Lähmung mit Cerebralerscheinungen aus hereditärer Grundlage (multiple Sklerose). Arch. Psychiat. Nervenkr. 16, 698–710 (1885).
Percy, A. K., Kaback, M. M.: Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis. New Engl. J. Med. 285, 785 (1971).
Porter, M. Y., Fluharty, A. L., Harris, S. E., Kihara, H.: The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukodystrophy. Arch. Biochem. Biophys. 138, 646 (1970).
Rahn, E. K., Yanoff, M., Tucker, S.: Neuro-ocular considerations in the Pelizaeus-Merzbacher Syndrome. A clinico-pathologic study. Amer. J. Ophthal. 66, 1143–1151 (1968).
Renard, G., Bargeton, E., Dhermy, P., Aron, J. J.: Etude histologique des altérations de la rétine et du nerf optique au cours de la leucodystrophie métachromatique (maladie de Scholz-Greenfield). Bull. Soc. François. Ophtal. 76, 40–58 (1963).
Schilder, P.: Zur Kenntnis der sogenannten diffusen Sklerose. Z. Ges. Neurol. Psychiat. 10, 1–606 (1912).
Stumpf, D., Austin, J.: Metachromatic leukodystrophy (MLD). IX Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD. Arch. Neurol. 24, 117 (1971).
Taniguchi, N., Nanba, I.: Enzymatic abnormality of the carrier state in metachromatic leukodystrophy. Clin. Chim. Acta 29, 375 (1970).
Thomas, G. H., Howell, R. R.: Arylsulfatase A activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy. Clin. Chim. Acta 36, 99 (1972).
Toussaint, D., Conreur, L., Pelc, S., Perier, O.: Les lésions oculaires de la leucodystrophie métachromatique. Bull. Soc. Belge Ophtal. 138, 579–586 (1964).
Tyler, H. R.: Pelizaeus-Merzbacher disease. A clinical study. Arch. Neurol. Psychiat. 80, 162 (1958).
Zeman, W., Demyer, W., Falls, H. F.: Pelizaeus-Merzbacher disease. A study in nosology. J. Neuropath. Exp. Neurol. 23, 334 (1964).
Cogan, D. G., Kuwabara, R., Moser, H., Hazand, G. W.: Retinopathy in a case of Farber’s lipogranulomatosis. Arch. Ophthal., Chicago 75, 752–757 (1966).
Moser, H. W., Prensky, A. L., Wolff, H. J., Rosman, N. P.: Farber’s lipogranulomatosis. Amer. J. Med. 47, 869 (1969).
Farber, S.: A lipid metabolie disorder. Disseminated lipogranulomatosis. A syndrome with similarity to and important difference from Niemann-Pick and Hand-Schuller-Christian disease, abstracted. Amer. J. Dis. Child. 84, 499–500 (1952).
Dawson, G., Stein, A. O.: Lactosyl ceramidosis: catabolic enzyme defect of glucosphingolipid metabolism. Science 170, 556 (1970).
Dawson, G., Matalon, R., Stein, A. O.: Lactosyl ceramidosis: lactosyl-ceramide galactosyl hydrolase deficiency and accumulation of lactosyl ceramide in cultured skin fibroblasts. J. Pediat. 79, 423 (1971).
Singer, H. S., Schafer, I. A.: White-Cell β-Galactosidase Activity. New Engl. J. Med. 282, 571 (1970).
Wewalka, F. G.: Syndrome of the Sea-Blue Histiocyte. Lancet II, 1248 (1970).
Sloan, H. R., Fredrickson, D. S.: Rare familial diseases with neutral lipid storage. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease, 3rd Ed. S. 808. New York: McGraw-Hill 1972.
Warburg, M.: Diagnosis of metabolic eye disease. Kopenhagen: Ed. Munksgaard 1972.
Wolman, M.: Persönliche Mitteilung an E. R. Berman, 1974.
Bach, G., Friedman, E., Weissmann, B., Neufeld, E. F.: The defect of the Hurler and Scheie syndromes: deficiency of α-L-iduronidase. Proc. Nat. Acad. Sci. (USA), in press.
Beebe, R. T., Formel, P. F.: Gargoylism. Sex-linked transmission in 9 males. Trans. Amer. Clin. Climatol. 66, 199 (1955).
Berliner, M. L.: Lipid keratitis of Hurler’s syndrome. Clinical and pathological report. Arch. Ophthal., Chicago 23, 97–102 (1939).
Berman, E. R., Vered, J., Bach, G.: A reliable spot test for mucopolysaccharidoses. Clin. Chem. 17, 886 (1971).
Bessiere, E., Verin, P., Le Rebeller, M. J., Descamp, F.: Variations sur le gargoylisme à propos d’un cas de „Spathurler”. Bull. Soc. Ophtal. Françoise 67, 1018–1024 (1967).
Brown, S., Kuwabara, T.: A newly recognized acid mucopolysaccharidosis with peripheral corneal opacification and skeletal deformities. AMA Section of Ophthalmology, New York, July 1969.
Cogan, D. G., Kuwabara, T.: The sphingo lipidoses and the eye. Arch. Ophthal., Chicago 79, 437 (1968).
Constantopoulos, G., Dekaban, A. S., Scheie, H. G.: Heterogeneity of disorders in patients with corneal clouding, normal intellect and mucopolysaccharidosis. Amer. J. Ophthal. 72, 1106–1127 (1971).
Dean, M. F., Muir, H., Ewins, R. J. F.: Hurler’s, Hunter’s and Morquio’s syndromes. A biochemical study in the light of current views of the underlying defects. Biochem. J. 123, 883 (1971).
Dorfman, A.: The molecular basis of the mucopolysaccharidoses. Current status of knowledge. Triangle 11, 43–50 (1972).
Dorfman, A., Matalon, R.: The mucopolysaccharidoses. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease. 3rd ed., p. 1218. New York: McGraw-Hill 1972.
Dyggve, H. V., Melchior, J. C., Clausen, J.: Morquio-Ulrich’s disease. An inborn error of metabolism. Arch. Dis. Child. 37, 525 (1962).
François, J., de Rouck, A.: L’électro-rétino-encéphalographie dans la maladie de Hurler. Ophthalmologica, Basel 139, 45–55 (1960).
Fratantoni, J. C., Neufeld, E. F., Uhlendorf, B. W., Jacobson, C. B.: Intrauterine diagnosis of the Hurler and Hunter syndromes. New Engl. J. Med. 280, 686 (1969).
Gills, J. P., Hobson, R., Hanley, W. B., McKusick, V. A.: Electroretinography and fundus oculi findings in Hurler’s disease and allied mucopolysaccharidoses. Arch. Ophthal., Chicago 74, 596–603 (1965).
Goldberg, M. F.: A review of selected inherited corneal dystrophies associated with systemic diseases. In: Bergsma, D.: The clinical delineation of birth defects, part VIII, Eye, orig. article series, p. 13–25. Baltimore: The Williams and Wilkins Co. 1971.
Goldberg, M. F., Duke, J. R.: Ocular histopathology in Hunter’s syndrome. Arch. Ophthal., Chicago 77, 503–512 (1967).
Goldberg, M. F., Scott, C. I., McKusick, V.: Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI). Amer. J.. Ophthal. 69, 969–975 (1970).
Gollance, R. B., D’Amico, R. A.: Atypical mucopolysaccharidosis and successful keratoplasty. Amer. J. Ophthal. 64, 707–716 (1967).
Gordon, B. A., Haust, D.: The mucopolysaccharidoses types I, II and III: urinary findings in 23 cases. Clin. Biochem. 3, 203 (1970).
Hooper, J. M. D.: An unusual case of gargoylism. Guy’s Hosp. Rep. 101, 222 (1952).
Horton, W. A., Schimke, R. N.: A new mucopolysaccharidosis (in press).
Hultberg, B., Ackerman, P. A., Dahlqvist, A.: Gargoylism. Hydrolysis of β-galactosides and tissue accumulation of galactose- and mannose-containing compounds. J. Clin. Invest. 49, 216 (1970).
Hunter, C.: A rare disease in two brothers (elevation of scapula, limitation of movement of joints and other skeletal abnormalities). Proc. Roy. Soc. Med. 10, 104 (1916–1917).
Hurler, G.: Über einen Typ multipler Abartungen vorwiegend am Skelettsystem. Ztschr. Kinderheilk. 24, 220 (1920).
Kresse, H., Neufeld, E. F.: The Sanfilippo A corrective factor. J. Biol. Chem. 247, 2164 (1972).
Jayle, G. E., Fantin, J.: A propos d’un cas de maladie de Hurler avec données électrorétinographiques. Bull. Soc. Ophtal. Françoise 63, 577–581 (1963).
Kaplan, D.: Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria. Amer. J. Med. 47, 721 (1969).
Kaplan, D., McKusick, V. A., Trebach, S., Lazarus, R.: Keratosulfate-chondroitin sulfate peptide from normal urine of patients with the Morquio syndrome (Mucopolysaccharidosis IV). J. Lab. Clin. Med. 71, 48 (1968).
Kenyon, K. R., Topping, T. M., Green, W. R., Maumenee, A. E.: Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI). Amer. J. Ophthal. 73, 718–741 (1972).
Konstas, P., Iconomou, A., Minas, B., Tsitros, A.: An atypical case of Hurler’s syndrome (Scheie’s syndrome). Arch. Soc. Ophtal. Grèce Nord 16, 111–118 (1967).
Kressler, R. J., Algerter, E. E.: Hurler’s syndrome. J. Pediat. 12, 579–593 (1938).
Langer, L. O., Kronenberg, R. S., Gorlin, R. J.: A case simulating Hurler syndrome of unusual longevity, without abnormal mucopolysacchariduria. Amer. J. Med. 40, 448 (1966).
Leung, L. S. E., Weinstein, G. W., Hobson, R. R.: Further electroretinographic studies of patients with mucopolysaccharidoses. In: Bergsma, D.: The clinical delineation of birth defects, part VIII, Eye, orig. article series, p. 32–40. Baltimore: The Williams and Wilkins Co. 1971.
Lindsay, S., Reilly, W. A., Gotham, F. J., Ska-hen, R.: Gargoylism: study of pathologic lesions and clinical review of 12 cases. Amer. J. Dis. Child. 76, 239–306 (1948).
Markakis, G.: The Pfaundler-Hurler disease. Bull. Soc. Hellen. Ophtal. 35, 100–107 (1967).
Maroteaux, P., Lamy, M.: Hurler’s disease, Morquio’s disease and related mucopolysaccharidoses. J. Pediat. 67, 312 (1965).
Maroteaux, P., Lamy, P.: La pseudopolydystrophie de Hurler. Presse Méd. 74, 2889 (1966).
McKusick, V. A.: The Hurler syndrome. In: Heritable disorders of connective tissue, 2nd ed. St. Louis: C. V. Mosby 1960.
McKusick, V. A., Howell, R. R., Hussels, I. R., Neufeld, E. P., Stevenson, R. E.: Allelism, non allelism and genetic compounds among the mucopolysaccharidoses. Lancet 1, 993 (1972).
Morquio, L.: Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pédiat. Paris 27, 145 (1929).
Neufeld, E. F., Cantz, M. J.: Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann. N.Y. Acad. Sci. 179, 580 (1971).
Neufeld, E. F., Fratantoni, J. C: Inborn errors of mucopolysaccharide metabolism. Science 169, 141 (1970).
Newell, F. W., Koistinen, A.: Lipochondrodystrophy. Arch. Ophthal., Chicago 53, 45–62 (1955).
Paufique, L., Ravault, M. P., Manual, Y., Didier-Laurent, A.: Gargoylisme fruste de Pfaundler-Hurler et dégénérescence pigmentaire rétinienne périphérique. Ann. Oculistique 198, 753–766 (1965)
Paufique, L., Ravault, M. P., Manual, Y., Didier-Laurent, A.: Gargoylisme fruste de Pfaundler-Hurler et dégénérescence pigmentaire rétinienne périphérique. Bull. Soc. Ophtal. Françoise 65, 447–450 (1965).
Pincus, J. H., Rossi, J. P., Daroff, R. B.: Delayed development of disturbed mucopolysaccharide metabolism in an Hurler variant. Arch. Neurol., Chicago 16, 244 (1967).
Quigley, H. A., Goldberg, M. F.: Scheie syndrome and macular corneal dystrophy. Arch. Ophthal., Chicago 85, 553–564 (1971).
Sanfilippo, S. J., Podosin, R., Langer, L. O., Good, R. A.: Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63, 837 (1963).
Sapuppo, C.: I sintomi oculari nel quadro clinico e nella patogenesi della malattia di Pfaundler-Hurler. G. Ital. Oftal. 6, 563–586 (1953).
Scheie, H. G., Hambrick, G. W., Jr., Barness, L. A.: A newly recognized forme fruste of Hurler’s disease (gargoylism). Amer. J. Ophthal. 53, 753 (1962).
Spranger, J. W.: Biochemical definition of the mucopolysaccharidoses. Z. Kinderheilk. 108, 17 (1970).
Spranger, J. W., Koch, F., McKusick, V. A., Natzehka, J., Wiedemann, H. R., Zellweger, H.: Mucopolysaccharidosis VI (Maroteaux-Lamy disease). Helv. Pediat. Acta 25, 337 (1970).
Steinbach, H. L., Preger, L., Williams, H. E., Cohen, P.: The Hurler syndrome without abnormal mucopolysacchaiduria. Radiology 90, 472 (1968).
Topping, T. M., Kenyon, K. R., Goldberg, M. F., Maumenee, A. E.: Ultrastructural ocular pathology of Hunter’s syndrome. Arch. Ophthal., Chicago 86, 164–177 (1971).
Ullrich, O., Wiedemann, H. R.: Zur Frage der konstitutionellen Granulationsanomalien der Leukozyten in ihrer Beziehung zu enchondralen Dysostosen. Klin. Wschr. 51, 107–115 (1953).
Walsh, F.: Clinical Neuro-Ophthalmology, 2nd. ed, p. 400. Baltimore: Williams and Wilkins 1957.
Berard-Badier, M., Adechy-Benkoel, L., Chamilian, A., Dubois-Gambarelli, D., Casanova, P., Mariani, A.: Etude ultrastructurale du parenchyme hépatique dans les mucopolysaccharidoses. Path. Biol., Paris 18, 117 (1970).
Goldberg, M. F., Cotlier, E., Fichen-scher, L. G., Kenyon, K., Enat, B., Borowsky, S. A.: Clinical, biochemical and electron microscopic study of a new autosomal recessive storage disease. Arch. Intern. Med. 128, 387 (1971).
Ardouin, M., Pecker, J., Petit, J., Feuvrier, Y. M.: Manifestations neuro-oculo-cutanées au cours d’une maladie de Refsum. Bull. Soc. François. Ophtal. 76, 137–139 (1963).
Baum, J. L., Tannenbaum, M., Kolodny, E. H.: Refsum’s syndrome with corneal involvement. Amer. J. Ophthal. 60, 699–708 (1965).
Bider, E.: Zur Kenntnis des Refsumschen Syndromes. Retinopathia pigmentosa bei hereditärer Enzymopathie des Fettstoffwechsels. Ophthalmologica Basel 152, 356–363 (1966).
Billings, J. J., O’Callaghan, J., O’Day, K.: Refsum’s syndrome. Heredopathia atactica polyneuritiformis. Trans. Ophthal. Soc. Austr. 17, 131–136 (1957).
Erdström, R., Gröntoft, O., Sandring, H.: Refsum’s disease. Three siblings, one autopsy. Acta Psychiat. Neurol. Scand. 34, 40–50 (1959).
Girard, P. F., Rougier, J., Ravault, M., Girod, M.: La maladie de Refsum. Bull. Soc. Ophtal. Françoise 70, 243–249 (1970).
Gordon, N., Hudson, R. E. B.: Refsum’s syndrome. Heredopathia atactica polyneuritiformis. A report of three cases, including a study of the cardiac pathology. Brain 82, 41–55 (1959).
Jager, B. V., Fred, H. L., Butler, R. B., Carnes, W. H.: Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Amer. J. Med. 29, 888–893 (1960).
Herndon, J. H., Steinberg, D., Uhlendorf, B. W.: Refsum’s disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes. New Engl. J. Med. 281, 1034 (1969).
Hoffmann, D. H.: Zur Kenntnis des Refsum Syndroms. Ber. Dtsch. Ophthal. Ges. 65, 288–293 (1963).
Levy, I. S.: Refsum’s syndrome. Trans. Ophthal. Soc. U.K. 90, 181–186 (1970).
Nordhagen, E., Gröndahl, J.: Heredopathia atactica polyneuritiformis (Refsum’s disease). Acta Ophthal., Kbh. 42, 629–633 (1964).
Reese, H., Bareta, J.: Heredopathia atactica polyneuritiformis. J. Neuropath. Exp. Neurol. 9, 385–395 (1957).
Refsum, S.: Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. Contribution to clinical study of hereditary diseases of nervous system. Acta Psychiat., Kbh., suppl. 38, 1–303 (1946).
Refsum, S.: Heredopathia atactica polyneuritiformis. Reconsideration. World Neurol. 1, 335–347 (1960).
Rougier, J.: La maladie de Refsum. Arch. Ophtal., Paris 30, 665–672 (1970).
Steinberg, D.: Phytanic acid storage disease: Refsum’s syndrome. In: Stanbury, J. B., Wijngaarden, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease, 3rd ed. p. 833. New York: McGraw-Hill 1972.
Steinberg, D., Herndon, J. H., Jr., Uhlendorf, B. W., Mize, C. E., Avigan, J., Milne, G. W. A.: Refsum’s disease: nature of the enzyme defect. Science 156, 1740 (1967).
Toussaint, D.: Personal communication, 1962.
Toussaint, D., Coers, C., Toppet, N.: Heredopathia atactica polyneuritiformis (Syndrome de Refsum). Constatations cliniques et biopsiques. Bull. Soc. Belge Ophtal. 122, 383–402 (1959).
Toussaint, D., Danis, P.: Etude histologique d’un cas de syndrome de Refsum. Bull. Soc. Belge Ophtal. 155, 532–540 (1970).
Toussaint, D., Danis, P.: An ocular pathologic study of Refsum’s syndrome. Amer. J. Ophthal. 72, 342–347 (1971).
Veltema, A. N., Verjaal, A.: Sur un cas d’hérédopathie ataxique polynévritique. Maladie de Refsum. Rev. Neurol. 104, 15–23 (1961).
Bickel, H., Harris, H.: Genetics of Lignac-Fanconi disease. Acta Paediat., Uppsala, Suppl. 42, vol. 90, p. 22 (1952).
Durand, P., Bugiani, O., Palladini, G. et al.: Nephropathie tubulo-interstitielle chronique, dégénérescence tapéto-rétinienne et lipidose généralisée. Analyse d’une observation anatomo-clinique. Arch. François. Pédiat. 28, 915–927 (1971).
François, J.: Hereditary chorio-retinal degenerations and metabolic disturbances. Exp. Eye Res. 3, 405–411 (1964).
François, J.: Ocular manifestations in amino-acidopathies. Adv. Ophthal. Basel: Karger 25, 28–103 (1972).
Frazier, P. D., Wong, V. G.: Cystinosis. Histology and crystallographic examination of crystals in eye tissues. Arch. Ophthal., Chicago 80, 91 (1968).
Hummeler, K., Zajac, B. A., Genel, M., Holzapple, P. G., Segal, S.: Human cystinosis: intracellular deposition of cystine. Science 168, 859 (1970).
Schneider, J. A., Seegmiller, J. E.: Cystinosis and the Fanconi syndrome. In: Stanbury, J. B., Wijngaarde, J. B., Fredrickson, D. S.: The metabolic basis of inherited disease, 3rd ed., p. 1581. New York: McGraw-Hill 1972.
Schneider, J. A., Wong, V., Seegmiller, J. E.: The early diagnosis of cystinosis. J. Pediat. 74, 114 (1969).
Wong, V. G., Kuwabara, T., Brubaker, R., Olson, W., Schulman, J. D., Seegmiller, J. E.: Intralysosomal cystine crystals in cystinosis. Invest. Ophthal. 9, 83 (1970).
Wong, V. G., Lietman, P. S., Seegmiller, J. E.: Alterations of pigment epithelium in cystinosis. Arch. Ophthal., Chicago 77, 361–369 (1967).
Wong, V. G., Schulman, J. D., Seegmiller, J. E.: Conjunctival biopsy for the biochemical diagnosis of cystinosis. Amer. J. Ophthal. 70, 278 (1970).
Fine, R. N., Wilson, W. A., Donnell, G. N.: Retinal changes in glycogen storage disease Type 1. Amer. J. Dis. Child. 115, 328 (1968).
Bacskulin, J., Bacskulin, E.: Beitrag zur Klinik der Hyalinosis cutis et mucosae. Acta Ophthal., Kbh. 43, 610–628 (1965).
Blodi, F. C., Whinery, R. D., Hendricks, C. A.: Lipid-proteinosis (Urbach-Wiethe) involving the lids. Trans. Amer. Ophthal. Soc. 58, 155 (1960).
Deodati, F.: La manifestation ophtalmologique de la lipoprotéinose d’Urbach-Wiethe. Bull. Soc. Ophtal. Françoise 64, 274–279 (1964).
François, J., Bacskulin, J., Follmann, P.: Manifestations oculaires du syndrome d’Urbach-Wiethe. Hyalinosis cutis et mucosae. Ophthalmologica 155, 433–448 (1968).
Hewson, G. E.: Lipidproteinosis (Urbach-Wiethe syndrome). Brit. J. Ophthal. 47, 242–245 (1963).
Holtz, K. H., Schulze, W.: Beitrag zur Klinik und Pathogenese der Hyalinosis cutis et mucosae. Arch. Dermat. Syph., Berlin 192, 206–237 (1951).
Jütte, A.: Thrombose der Arteria carotis interna bei Hyalinosis cutis et mucosae (Lipoidproteinose Urbach-Wiethe). Ber. Dtsch. Ophthal. Ges. 64, 459 (1961).
Jütte, A.: Augenveränderungen bei Hyalinosis cutis et mucosae (Lipoido-proteinose Urbach-Wiethe). Med. Bild 5, 35 (1962).
Katzenellenbogen, L., Ungar, H.: Lipoid Proteinosis. Reinvestigation of a case previously reported by Urbach and Wiethe in 1929. Dermatologica, Basel 115, 23 (1957).
Marquardt, R.: Augenveränderungen bei der Hyalinosis cutis et mucosae (Lipoidoproteinose Urbach-Wiethe) am Auge. Ber. Dtsch. Ophthal. Ges. 64, 458 (1961).
Marquardt, R.: Manifestation der Hyalinosis cutis et mucosae (Lipoidproteinose Urbach-Wiethe) am Auge. Klin. Mbl. Augenheilk. 140, 684 (1962).
Muirhead, J. F., Jackson, P.: Lipoid proteinosis of Urbach-Wiethe. Arch. Ophthal., Chicago 69, 174–179 (1963).
Newton, F. H., Rosenberg, R. N., Lampert, P. W., O’Brien, J. S.: Neurologic involvement in Urbach-Wiethe’s disease (lipoid proteinosis). Neurology 21, 1205 (1971).
Sanchez Cabarello, H. J., Ambrosetti, F. E., Lopez Lacarrere, E.: Lipoido-proteinosis de Urbach. Sem. Méd. 105, 835 (1954).
Schilovitz, G., Grupper, C., Payrau, P.: Maladie d’Urbach-Wiethe. Association avec rétinopathie pigmentaire. Ann. Oculistique 206, 105–114 (1973).
Urbach, E.: Über eine familiäre lokale Lipoidose der Haut und Schleimhäute auf Grundlage einer diabetischen Stoffwechsel-Störung. Arch. Dermat. Syph., Berlin 157, 451 (1929).
Urbach, E., Wiethe, C.: Lipoidosis cutis et mucosae. Virchows Arch. Path. Anat. 273, 285 (1929).
Warburg, M.: Diagnosis of metabolic eye diseases. 1st ed. Copenhagen: Munksgaard 1972.
Wiethe, C.: Über lokale Hyalinablagerungen in den oberen Luftwegen. Acta Oto-Laryng., Stockholm 10, 237 (1926).
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François, J. (1975). Maculabefunde bei Speicherkrankheiten. In: Jaeger, W. (eds) Erkrankungen der Macula. Deutsche Ophthalmologische Gesellschaft, vol 73. J.F. Bergmann-Verlag, Munich. https://doi.org/10.1007/978-3-642-47089-9_47
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