Hostname: page-component-7dd5485656-kp629 Total loading time: 0 Render date: 2025-10-24T04:43:04.310Z Has data issue: false hasContentIssue false
  • English
  • Français

Tapetoretinal Degenerations and Disorders of lipid Metabolism. Part I: Clinical, Genetic, Pathological, and Therapeutic Aspects

Published online by Cambridge University Press:  01 August 2014

S. Merin
S. Merin*
Affiliation:
Department of Ophthalmology, Hadassah University Hospital, Jerusalem, Israel
*
Department of Ophthalmology, Hadassah University Hospital, P.O. Box 499, Jerusalem, Israel

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The clinical findings in a group of syndromes in which tapetoretinal degenerations are associated with systemic lipid disorders are described. This group includes abetalipoproteinemia (the syndrome of Bassen and Kornzweig), Refsum's syndrome, Neuronal Ceroid Lipofuscinosis, and Cockayne's syndrome. AII four are transmitted by single autosomal recessive genes. The pathological findings are discussed. If diagnosed early enough, abetalipoproteinemia should be treated by administration of vitamin A, and Refsum's syndrome by restriction of intake of phytanic acid and phytol.

Information

Type
1. Tapetoretinal Degenerations and CNS Genetic Disease
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 25 - 31
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Bassen, F.A., Kornzweig, A.L. 1950. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood, 5: 381–387.CrossRefGoogle Scholar
Berman, E.R. 1973. Tapetoretinal degenerations and disorders of lipid metabolism. Part II: Biochemical aspects. Proc. 4th Int. Congr. Neurogenet. Neuroophthalmol.: Acta Genet. Med. Gemellol. (Roma), 23: 33–47.Google Scholar
Bider, E. 1966. The Refsum syndrome: pigmentary retinopathy with hereditary enzymopathy of fat metabolism. Ophthalmologica, 152: 356–363.Google Scholar
Bohlmann, H.G., Thiede, H., Rosentiel, K., Herdemerten, S., Panitz, O., Talkmann, W. 1972. A-β-lipoproteinamie bei drei Geschwistern. Dtsch. Med. Wochenschr., 97: 892–896.CrossRefGoogle Scholar
Campbell, D.A., Harrison, R., Tonks, E.L. 1964. Retinitis pigmentosa. Vitamin A serum levels in relation to clinical findings. Exp. Eye Res., 3: 412–426.Google Scholar
Carr, R.E. 1970. Vitamin A therapy reverse degenerative retinal syndrome. Clin. Trends, 8: 8.Google Scholar
Cockayne, E.A. 1936. Dwarfism with retinal atrophy and deafness. Arch. Dis. Child., 11: 1–8.Google Scholar
Cockayne, E.A. 1946. Dwarfism with retinal atrophy and deafness. Arch. Dis. Child., 21: 52–54.CrossRefGoogle ScholarPubMed
Coles, W.H. 1969. Ocular manifestations of Cockayne's syndrome. Am. J. Ophthalmol., 67: 762–764.CrossRefGoogle ScholarPubMed
Donahue, S., Watanabe, I., Zeman, W. 1968. Morphology of leukocytic hypergranulation in Batten's disease. Ann. N.Y. Acad. Sci., 155: 847–859.CrossRefGoogle Scholar
Forsyth, C.C., Lloyd, J.K., Fosbrooke, A.S. 1965. A-beta-lipoproteinemia. Arch. Dis. Child., 40: 47–52.Google Scholar
Fredrickson, D.S., Gotto, A.M., Levy, R.I. 1972. Familial lipoprotein deficiency. In Stanbury, J.B., Wyngaarden, J.B. and Fredrickson, D.S. (eds.): The Metabolic Basis of Inherited Disease. [3rd ed., pp. 493–530]. New York: McGraw-Hill Book Co. Google Scholar
Fujimoto, W.Y., Greene, M.L., Seegmiller, J.E. 1969. Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease and normal growth hormone. J. Pediatr., 75: 881–884.Google Scholar
Göttinger, W., Minauf, M. 1971. Netzhautveranderungen bei Juveniler Amaurotischer Idiotie. Ophthalmoskopische und histopathologische befunde. Klin. Monatsbi. Augenheilkd., 159: 532–538 Google Scholar
Gouras, P., Carr, R.E., Gunkel, R.D. 1971. Retinitis pigmentosa in abetalipoproteinemia: effects of vitamin A. Invest. Ophthalmol., 10: 784–793.Google Scholar
Jampel, R.S., Falls, H.F. 1958. Atypical retinitis pigmentosa, acanthocytosis and heredodegenerative neuromuscular disease. Arch. Ophthalmol., 59: 818–820.Google Scholar
Kahlke, W., Richterich, R. 1965. Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethyl-hexadecanoic acid. II. Isolation and identification of the storage product. Am. J. Med., 39: 237–241.Google Scholar
Kayden, H.J. 1972. Abetalipoproteinemia. Annu. Rev. Med., 23: 285–296.CrossRefGoogle ScholarPubMed
Khachadurian, A.K., Freyha, R., Schamaa, M.M., Baghdassarian, S.A. 1971. A-β-lipoproteinemia and colorblindness. Arch. Dis. Child., 46: 871–873.Google Scholar
Klenk, E., Kahlke, W. 1963. Ueber das Vorkommen der 3, 7, 11, 15-tetramethyl-Hexadecansäure (Phytansäure) in den cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Refsumsyndrom). Hoppe Seylers Z. Physiol. Chem., 333: 133–139.Google Scholar
Kornzweig, A.L., Bassen, F.A. 1957. Retinitis pigmentosa, acanthocytosis and heredodegenerative neuromuscular disease. Arch. Ophthalmol., 58: 183–188.CrossRefGoogle Scholar
Kornzweig, A.L. 1970. Bassen-Kornzweig syndrome, present status. J. Med. Genet., 7: 271–276.Google Scholar
Lamy, M., Frezal, J., Polonovski, J., Rey, J. 1961. L'absence congénitale de beta-lipoproteines. Presse Med., 69: 1511–1514.Google Scholar
Levy, I.S. 1970. Refsum's syndrome. Trans. Ophthalmol. Soc. U.K., 90: 181–186.Google Scholar
Lieberman, W.J., Schimek, R.A., Snyder, C.H. 1961. Cockayne's disease. Am. J. Ophthalmol., 52: 116–118.Google Scholar
Mabry, C.C., DiGeorge, A.M., Auerbach, V.H. 1960. Studies concerning the defect in a patient with acanthocytosis. Clin. Res., 8: 371.Google Scholar
MacDonald, W.B., Fitch, K.D., Lewis, I.C. 1960. Cockayne's syndrome: an heredo-familial disorder of growth and development. Pediatrics, 25: 997–1007.CrossRefGoogle ScholarPubMed
Manschot, W.A. 1968. Retinal histology in amaurotic idiocies and tapeto-retinal degenerations. Ophthalmologica, 156: 28–37.CrossRefGoogle ScholarPubMed
Mier, M., Schwartz, S.O., Boshes, B. 1960. Acanthocytosis, pigmentary degeneration of the retina and ataxia neuropathy: a genetically determined syndrome with associated metabolic disorder. Blood, 16: 1586–1608.Google Scholar
Moossy, J. 1967. The neuropathology of Cockayne's syndrome. J. Neuropathol. Exp. Neurol., 26: 654–660.Google Scholar
Paddison, R.M., Moossy, J., Derbes, V.K., Kloepfer, W. 1963. Cockayne's syndrome. Dermatol. Trop., 2: 195–203.Google Scholar
Pearce, W.G. 1972. Ocular and genetic features of Cockayne's syndrome. Can. J. Ophthalmol., 7; 435–444.Google Scholar
Pfeiffer, R.A., Bachmann, K.D. 1973. An atypical case of Cockayne's syndrome. Clin. Genet., 4: 28–32.Google Scholar
Rayner, S. 1962. Juvenile amaurotic idiocy in Sweden. Hereditas (Lund), p. 107.Google Scholar
Refsum, S. 1945. Heredataxia hemeralopia polyneuritiformis. Nord. Med., 28: 2682–2691.Google Scholar
Refsum, S. 1946. Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. Contribution to clinical study of hereditary diseases of nervous system. Acta Psychiatr. Scand. [Suppl.], 38: 1–303.Google Scholar
Richterich, R., Moser, H., Rossi, E. 1965 a. Refsum's disease (heredopathia atactica polyneuritiformis). A review of the clinical findings. Humangenetik, 1: 322–332.Google ScholarPubMed
Richterich, R., Rosin, S., Rossi, E. 1965 b. Refsum's disease (heredopathia atactica polyneuritiformis). Formal genetics. Humangenetik, 1: 333–336.Google ScholarPubMed
Rowlatt, U. 1969. Cockayne's syndrome. Report of a case with necropsy findings. Acta Neuropathol., 14: 52–61.Google Scholar
Salt, H.B., Wolff, O.H., Lloyd, J.K., Fosbrooke, A.S., Cameron, A.H., Hubble, D.V. 1960. On having no beta-lipoproteins. A syndrome comprising a-beta-lipoproteinemia, acanthocytosis and steatorrhea. Lancet, 2: 325–329.Google Scholar
Singer, K., Fisher, B., Perlstein, M.A. 1952. Acanthocytosis: a genetic erythrocytic malformation. Blood, 7: 577–591.Google Scholar
Sjögren, T. 1931. Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen. Hereditas, 14: 197.Google Scholar
Sperling, M.A., Hiles, D.A., Kennerdell, J.S. 1972. Electroretinographic responses following vitamin A therapy in a-beta-lipoproteinemia. Am. J. Ophthalmol., 73: 342–351.Google Scholar
Steinberg, D., Vroom, F.Q., Engel, W.K., Cammermeyer, J., Mize, C.E., Avigan, J. 1967. Refsum's disease, a recently characterized lipidosis involving the nervous system (clinical staff conference). Ann. Intern. Med., 66: 365–395.Google Scholar
Steinberg, D., Mize, C.E., Herndon, J.H. Jr., Fales, H.M., Engels, W.K., Vsoom, F.Q. 1970. Phytanic acid in patients with Refsum's syndrome and response to dietary treatment. Arch. Intern. Med., 125: 75–87.Google Scholar
Strouth, J.C., Zeman, W., Merrit, A.D. 1966. Leukocyte abnormalities in familial amaurotic idiocy. N. Engl. J. Med., 274: 36–38.Google Scholar
Toussaint, D., Danis, P. 1971. An ocular pathologic study of Refsum's syndrome. Am. J. Ophthalmol., 72: 243–247.CrossRefGoogle ScholarPubMed
Von Sallmann, L., Gelderman, A.H., Laster, L. 1969. Ocular histopathologic changes in a case of a-beta-lipoproteinemia (Bassen-Kornzweig syndrome). Doc. Ophthalmol., 26: 451–460.Google Scholar
Wallis, K., Gross, M., Zaidman, J.L., Julsary, A., Szeinberg, A., Kook, A.I. 1971. Tocopherol therapy in acathocytosis. Pediatrics, 48: 669–671.CrossRefGoogle Scholar
Witzleben, C.L., Smith, K., Nelson, J.S., Monteleone, P.L., Livingstone, D. 1971. Pediatrics, 79: 285–293.Google Scholar
Wolff, O.H., Lloyd, J.K., Tonks, E.L. 1964. A-beta-lipoproteinemia with special reference to the visual defect. Exp. Eye Res., 3: 439–442.Google Scholar
Zeman, W., Dyken, P. 1969. Neuronal ceroid lipofuscinosis (Batten's disease): relationship to amaurotic family. Pediatrics, 44: 570.CrossRefGoogle ScholarPubMed