Hostname: page-component-586b7cd67f-t8hqh Total loading time: 0 Render date: 2024-11-26T07:26:19.127Z Has data issue: false hasContentIssue false

Tapetoretinal Degenerations and Disorders of Lipid Metabolism. Part II: Biochemical Aspects

Published online by Cambridge University Press:  01 August 2014

E.R. Berman*
Affiliation:
Department of Ophthalmology, Biochemistry Research Laboratory, Hebrew University-Hadassah Medical School, Jerusalem, Israel
*
Department of Ophthalmology, Biochemistry Research Laboratory, Hadassah University Hospital, 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.

Inherited tapetoretinal degenerations associated with, or caused by, abnormalities in lipid metabolism are discussed in terms of recent findings regarding their etiology. The biochemical basis of these tapetoretinal degenerations may be summarized as follows.

(a) In abetalipoproteinemia (the Bassen-Kornzweig syndrome) there is a complete absence of all plasma lipoproteins except HDL (alfalipoprotein; high density lipoprotein). In addition the levels of plasma lipids, including vitamin A, are grossly dimished. The genetically-caused basic defect in this disorder is the absence of a specific protein component, apoLP-ser, in the plasma lipoproteins.

(b) In a milder form of hypobetalipoproteinemia, transmitted as an autosomal dominant trait, there is little, if any, retinal degeneration.

(c) Refsum's syndrome is characterized by greatly increased plasma levels of phytanic acid, a 20-carbon branched-chain fatty acid. This substance is not synthesized in the body, but originates from dietary sources only. Patients with Refsum's syndrome lack the enzyme (phytanic acid oxidase) necessary to oxidize this fatty acid, and its accumulation in the tissues has severe consequences. Therapeutic measures, consisting of restriction of dietary phytanic acid, have given encouraging results.

(d) Three forms of Batten's disease (neuronal ceroid lipofuscinosis) are now recognized. These are (1) the rapidly progressive (Jansky-Bielschowsky) form, (2) the chronic (Batten-Mayou-Vogt-Spielmeyer-Sjögren) form, which is the most common, and (3) the late onset (Kufs') form. All are associated — to varying degrees — with an accumulation of autofluorescent ceroidlipofuscin pigments. The enzymatic defect is believed to consist of abnormalities in peroxidase enzymes.

(e) Other tapetoretinal degenerations thought to be associated with defects in lipid metabolism are discussed briefly. These include Hooffs disease, Cockayne's syndrome, and Alstrom's syndrome.

Type
1. Tapetoretinal Degenerations and CNS Genetic Disease
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Bach, G., Cantz, M., Hall, C.W., Neufeld, E.F. 1973. Genetic errors of mucopolysaccharide degradation. Biochem. Soc. Trans., 1: 231234.CrossRefGoogle Scholar
Bassen, F.A., Kornzweig, A.L. 1950. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood, 5: 381387.CrossRefGoogle Scholar
Berman, E.R. 1973. Biochemical diagnostic tests in genetic and metabolic eye diseases. In Goldberg, Morton F. (ed.): Genetic Diseases in Ophthalmology. [pp. 73138]. Boston: Little, Brown and Co. Google 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: 412426.CrossRefGoogle ScholarPubMed
Durand, P., Bugiani, O., Palladini, G., Borrone, C., Della Cella, G., Siliato, F. 1971. Néphropathie tubulo-interstitielle chronique, dégénérescence tapéto-rétinienne et lipidose généralisée. Arch. Fr. Pediatr., 28: 915927.Google Scholar
Feeney, L., Grieshaber, J., Hogan, M.J. 1965. Studies on human ocular pigment. In: Rohen, J.W. (ed.): The Structure of the Eye. [p. 105]. Stuttgart: Schattauer-Verlag.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. 493530]. New York: McGraw-Hill Book Co. Google Scholar
Gordon, N.S., Marsden, H.B., Noronha, M.J. 1972. Neuronal ceroid lipofuscinosis (Batten's disease). Arch. Dis. Child., 47: 285291.CrossRefGoogle ScholarPubMed
Gotto, A.M., Levy, R.I., John, K., Fredrickson, D.S. 1971. On the nature of the protein defect in abetalipoproteinemia. N. Engl. J. Med., 284: 813.CrossRefGoogle Scholar
Gouras, P., Carr, R.E., Gunkel, R.D. 1971. Retinitis pigmentosa in abetalipoproteinemia: effects of vitamin A. Invest. Ophthalmol., 10: 784793.Google ScholarPubMed
Hagberg, B., Sourander, P., Svennerholm, L. 1968. Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta Paediatr. Scand., 57: 495499.CrossRefGoogle ScholarPubMed
Herndon, J.H. Jr., Steinberg, D., Uhlendorf, B.W. 1969. Refsum's disease: defective oxidation of phytanic acid in tissue cultured derived from homozygotes and heterozygotes. N. Engl. J. Med., 281: 10341038.CrossRefGoogle ScholarPubMed
Hogan, M.J., Alvarado, J.A., Weddell, J.E. 1971. Retina. In: Histology of the Human Eye. [pp. 393522]. Philadelphia: W.B. Saunders Co. Google Scholar
Kark, R.A.P., Engel, W.K., Blass, J.P., Steinberg, D., Walsh, G.O. 1971. Heredopathia atactica polyneuritiformis (Refsum's disease): a second trial of dietary therapy in two patients. Nervous sistem. Birth Defects, 7: 5355.Google ScholarPubMed
Kayden, H.J. 1972. Abetalipoproteinemia Ann. Rev. Med., 23: 285296.CrossRefGoogle ScholarPubMed
Kolodny, E.H. 1972. Clinical and biochemical genetics of the lipidoses. Seminars in Hematology, 9: 251271.Google ScholarPubMed
Kornzweig, A.L., Bassen, F.A. 1957. Retinitis pigmentosa, acanthocytosis, and heredodegenerative neuromuscular disease. Arch. Ophthalmol., 58: 183187.CrossRefGoogle Scholar
Kornzweig, A.L. 1970. Bassen-Kornzweig syndrome. Present status. J. Med. Genet., 7: 271276.CrossRefGoogle ScholarPubMed
Mars, H., Lewis, L.A., Robertson, A.L. Jr., Butkus, A., Williams, G.H. Jr. 1969. Familial hypo-β-lipoproteinemia, Am. J. Med., 46: 886900.CrossRefGoogle ScholarPubMed
Menkes, J.H., Harris, D.R., Stein, N. 1972. Biochemical studies on brain expiants and fibroblast cultures in Batten's disease. In Volk, B.W. and Aronson, S. M. (eds.): Sphingolipids, Sphingolipidoses and Allied Disorders, [pp. 549560]. New York-London: Plenum Press.CrossRefGoogle Scholar
Neufeld, E.F. 1973. Mucopolysaccharidoses: the biochemical approach. In McKusick, V.A. and Clairborne, R. (eds.): Medical Genetics. [pp. 141147]. New York: HP Publishing Co., Inc. Google Scholar
O'Brien, J.S., Okada, S., Wan Ho, M., Fillerup, D.L., Veath, M.L., Adams, K. 1971. Ganglioside storage diseases. Fed. Proc., 30: 956969.Google ScholarPubMed
Porta, E.A., Harctroft, W.S. 1969. Lipid pigments in relation to aging and dietary factors (Lipofuscins). In Wolman, M. (ed.): Pigments in Pathology [pp. 191235]. New York-London: Academic Press.Google Scholar
Raivio, K.P., Seegmiller, J.E. 1972. Genetic diseases of metabolism. Ann. Rev. Biochem., 41: 543576.CrossRefGoogle ScholarPubMed
Rayner, S. 1962. Juvenile amaurotic idiocy in Sweden. Hereditas (Lund), p. 107.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: 1303.Google Scholar
Rouser, G., Wade, R.R. 1969. Amaurotic idiocy. Lipids, 4: 176.CrossRefGoogle ScholarPubMed
Salt, H.B., Wolff, O.H., Lloyd, J.K., Fosbrooke, A.S., Cameron, A.H., Hubble, D.V. 1960. On having no beta-lipoprotein: a syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhea. Lancet, 2: 325329.CrossRefGoogle Scholar
Siakotos, A.N., Watanabe, I., Saito, A., Fleischer, S. 1970. Procedures for the isolation of two distinct lipopigments from human brain: lipofuscin and ceroid. Biochem. Med., 4: 361375.CrossRefGoogle ScholarPubMed
Siakotos, A.N., Goebel, H.H., Patel, V., Watanabe, I., Zeman, W. 1972. The morphogenesis and biochemical characteristics of ceroid isolated from cases of neuronal ceroid-Iiposuscinosis. In Volk, B.W. and Aronson, S.M. (eds.): Sphingolipids, Sphingolipidoses and Allied Disorders, [pp. 5361]. New York-London: Plenum Press.CrossRefGoogle Scholar
Sjögren, T. 1931. Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen. Hereditas, 14: 197.CrossRefGoogle 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: 342351.CrossRefGoogle ScholarPubMed
Steinberg, D., Mize, C.E., Herndon, J.H. Jr., Fales, H.M., Engel, K., Vroom, F.Q. 1970. Phytanic acid in patients with Refsum's syndrome and response to dietary treatment. Arch. Intern. Med., 125: 7587.CrossRefGoogle ScholarPubMed
Steinberg, D. 1972. Phytanic acid storage disease: Refsum's syndrome. In Stanbury, J.B., Wyngaarden, J.B. and Fredrickson, D.S. (eds.): The Metabolic Basis of Inherited Disease. [3rd ed., pp. 833853]. New York: McGraw-Hill.Google Scholar
Toussaint, D., Danis, P. 1971. An ocular pathologic study of Refsum's syndrome. Am. J. Ophthalmol., 72: 342347.CrossRefGoogle ScholarPubMed
Van Büchern, F.S.P., Pol, G., de Gier, J., Bottcher, C.J.F., Pries, C. 1966. Congenital β-lipoprotein deficiency. Am. J. Med., 40: 794804.CrossRefGoogle Scholar
Von Sallmann, L., Gelderman, A.H., Laster, L. 1969. Ocular histopathologic changes in a case of a-β-lipoproteinemia (Bassen-Kornzweig syndrome). Documenta Ophthalmol., 26: 451460.CrossRefGoogle Scholar
Warburg, M. 1972. Diagnosis of Metabolic Eye Diseases. Copenhagen: Munsgaard.Google Scholar
Wolff, O.H., Lloyd, J.K., Tonks, E.L. 1964. A-β3-lipoproteinaemia with special reference to the visual defect. Exp. Eye Res., 3: 439442.CrossRefGoogle Scholar
Zeman, W., Dyken, P. 1969. Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics, 44: 570583.CrossRefGoogle ScholarPubMed
Zeman, W. 1970. Historical development of the nosological concept of amaurotic familial idiocy. In Vinkin, P.J. and Bruyn, G.W. (eds.): Handbook of Clinical Neurology. [Vol. 10, pp. 212232]. New York: American Elsevier.Google Scholar
Zeman, W., Donahue, S., Dyken, P., Green, J. 1970. The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome). In Vinken, P.J. and Bruyn, G.W. (eds.): Handbook of Clinical Neurology. [Vol. 10, pp. 588679]. New York: American Elsevier.Google Scholar
Zeman, W. 1971 a. The neuronal ceroid-lipofuscinoses. Batten-Vogt syndrome: a model for human aging? Adv. Gerontol. Res., 3: 147170.Google Scholar
Zeman, W. 1971 b. Morphologic approaches to the nosology of nervous system defects. Nervous system. Birth Defects, 7: 2330.Google Scholar