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Dégénérescence tapéto-rétinienne associée à un Syndrome hypolipidémique

Published online by Cambridge University Press:  01 August 2014

J. François  and
R. De Blond
J. François
Affiliation:
Clinique Ophtalmologique de l'Université de Gand (Belgique)
R. De Blond
Affiliation:
Clinique Ophtalmologique de l'Université de Gand (Belgique)

Summary

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1. A tapeto-retinal degeneration can be observed in association with a disturbance in the metabolism of the lipids.

2. This fact gives a new argument in favor of the hypothesis that the tapeto-retinal degeneration is due to a metabolic alteration and more probably to an enzymatic disturbance in the sensorial epithelium of the retina.

3. The investigations of Hooft et al (1962) demonstrate that it may be an insufficiency of the pyridine nucleotide coenzymes following a primary disturbance in the metabolism of tryptophane.

4. In a case of pigmentary retinopathy, it is now indispensable to do a systematic blood examination both on the morphological and on the biochemical and metabolic point of view.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 12 , Issue 2 , April 1963 , pp. 145 - 157
Copyright
Copyright © The International Society for Twin Studies 1963

References

Bibliographie

Bassen, F.A. and Kornzweig, A.L.: Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood, 5, 381–387, 1950.CrossRefGoogle Scholar
Druez, G.: Un nouveau cas d'acanthocytose. Dysmorphic érythrocytaire congénitale avec rétinite, troubles nerveux et stigmates dégénératifs. Rev. Hémat., 14, 3–11, 1959.Google Scholar
François, J.: L'hérédité en ophtalmologie, Ed. Masson, Paris, 1958.Google Scholar
Friedman, I.S., Cohn, H., Zymaris, M. and Goldner, M.G.: Hypocholesteremia in idiopathic steatorrhea. A.M.A. Arch. Intern. Med., 105, 136–144, 1960.Google ScholarPubMed
Gerald, B. and Phillips, M.D.: Quantitative chromatographic analysis of plasma and red blood cell lipid in patients with acanthocytosis. J. Laborat. and Clinical Med., 59, 357, 1962.Google Scholar
Hooft, C., Delaey, P., Herpol, J., De Loore, F. and Verbeeck, J.: Familial hypolipidaemia and retarded development without steatorrhoea. Helv. Paediat. Acta, 17, 1–23, 1962.Google Scholar
Jampel, R.S. and Falls, H.F.: Atypical retinitis pigmentosa, acanthocytosis and heredodegenerative neuromuscular disease. Arch. Ophthal. (Chicago), 59, 818–820, 1958.Google Scholar
Kornzweig, A.L. and Bassen, F.A.: Retinitis pigmentosa, acanthocytosis and heredodegenerative neuromuscular disease. Arch. Ophthal. (Chicago), 58, 183–187, 1957.Google Scholar
Lamy, M., Frezal, J., Polonovski, J. et Rey, J.: L'absence congénitale de β-lipoprotéines. Presse méd., 69, 1511–1514, 1961.Google Scholar
Mier, M., Schwartz, O. S. and Bosher, B.: Acanthocytosis, pigmentary degeneration of the retina and ataxic neuropathy; a genetically determined syndrome with associated metabolic disorders. Blood, 16, 1586–1608, 1960.CrossRefGoogle Scholar
Salt, H.B., Wolff, O.H., Lloyd, J.K., Fosbrooke, A.S., Cameron, A.H. and Hubble, D.V.: On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis and steatorrhoea. Lancet, 1960/II, 325.CrossRefGoogle Scholar
Schwartz, J.F. et coll.: Bassen-Kornzweig Syndrome: neuromuscular disorder resembling Friedreich's ataxia, retinitis pigmentosa, acanthocytosis, steatorrhoea and an abnormality of lipid metabolism. Trans. Am. Neurol. Assoc., 1961.Google Scholar
Singer, K., Fisher, B. and Perlstein, M. A.: Acanthocytosis: a genetic erythrocytic malformation. Blood, 7, 577–581, 1952.CrossRefGoogle Scholar