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Zusammenfassung

In diesem Kapitel werden die charakteristischen okulären Befunde bei einer Reihe von angeborenen Stoffwechselkrankheiten beschrieben, und es wird auf ihre Entstehung, ihre Veränderungen im Krankheitsverlauf und, falls vorhanden, auf ihre therapeutische Beeinflussung eingegangen. In Tab. 12.1 sind wichtige bei Stoffwechselkrankheiten vorkommende okuläre Befunde zusammengestellt.

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Literatur

  1. Ach T, Kolling G, Rohrschneider K, Richter C et al. (2012) Okuläre Zeichen eines mitochondrialen trifunktionalen Proteindefekts. Ophthal mologe 109:277–282

    Google Scholar 

  2. Ala A, Walker AP, Ashkan K et al (2007) Wilson’s disease. Lancet 369:397–408

    Google Scholar 

  3. Arshinoff SA, Leung K, Strube YNJ (2009) Gyrate Atrophy. In: Tasman W, Jaeger EA (Hrsg) Duane’s Ophthalmology on DVD.-ROM. Lippincott Williams & Wilkins, Philadelphia, Pa

    Google Scholar 

  4. Bateman JB (2009) Ophthalmic manifestation of defects in metabolism. In: Tasman W, Jaeger EA (Hrsg) Duane’s Ophthalmology on DVD.-ROM. Lippincott Williams & Wilkins, Philadelphia, Pa

    Google Scholar 

  5. Beigi B, O`Keefe M, Bowell R et al (1993) Ophthalmic findings in classical galactosaemia – prospective study. Br J Ophthalmol 77:162–164

    Google Scholar 

  6. Bosch AM, Bakker HD van Gennip AH et al (2002) Clinical features of galactokinase deficiency: a review of the literature. J InheritMetab Dis 25:629–634

    Google Scholar 

  7. Cross HE, Jensen AD (1973) Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 75:405–420

    Google Scholar 

  8. Cruysberg J, Wevers R, Egelen B van et al (1995) Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol 120:579–604

    Google Scholar 

  9. Dahl S vom, Niederau C, Häussinger D (1998) Loss of vision in Gaucher’s disease and its reversal by enzyme replacement therapy. N Engl J Med 338:1471–1472

    Google Scholar 

  10. Denniston AKO, Wehbeh L (2005) More on porphyries. Lancet 365:937

    Google Scholar 

  11. Esmaeli B, Burnstine MA, Martonyl CL et al (1996) Regression of Kayser-Fleischer rings during oral zinc therapy: correlation with systemic manifestations of Wilson’s disease. Cornea 15:582–588

    Google Scholar 

  12. Fahnehjelm KT, Ashworth JL, Pitz S et al (2012) Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol 90:595–602

    Google Scholar 

  13. Flechter AL, Pennesi ME, Harding CO et al. (2012) Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Gen Metabol 106:18–24

    Google Scholar 

  14. Ganesh A, Bruwer Z, Al-Thihli K (2013) An update on ocular involvement in mucopolysaccharidoses. Curr OpinOphthalmol 24:379–388

    Google Scholar 

  15. Gerding H (1998) Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-ß-synthetase deficiency. Eur J Pediatr 157:94–101

    Google Scholar 

  16. Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA (1986) Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol 104:706–711

    Google Scholar 

  17. Kaiser-Kupfer MI, Gazzo MA, DAtiles MB (1990) A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. ArchOphthalmol 108:689–693

    Google Scholar 

  18. Margo CE, Smith DB (2009) Ocular manifestations of acquired muscle disease. In: Tasman W, Jaeger EA (Hrsg) Duane’s Ophthalmology on DVD.-ROM. Lippincott Williams & Wilkins, Philadelphia, Pa

    Google Scholar 

  19. Martyn LJ (2009) Neurometabolic diseases affecting the eye. In: Tasman W, Jaeger EA (Hrsg) Duane’s Ophthalmology on DVD.-ROM. Lippincott Williams & Wilkins, Philadelphia, Pa

    Google Scholar 

  20. Memarzadeh F, Yiu SC, Ronald ES (2009) Cornea and Systemic diseases. In: Tasman W, Jaeger EA (Hrsg) Duane’s Ophthalmology on DVD.-ROM. Lippincott Williams & Wilkins, Philadelphia, Pa

    Google Scholar 

  21. Ramsey RC (1990) Homocystinuria. In: Gold DH, Weingeist TA (Hrsg) The eye in systemic disease. JP Lippincott, Philadelphia, S 319ff

    Google Scholar 

  22. Samiy N (2008) Ocular features of Fabry disease: Diagnosis of a treatable life-threatening disorder. Surv Ophthalmol 53:416–423

    Google Scholar 

  23. Sanderson PO, Kuwabara T Stark WJ et al (1974) Cystinosis. A clinical, histopathological, and ultrastructural study. Arch Ophthalmol 91:270–274

    Google Scholar 

  24. Scheinberg I, Sternlieb I (1984) Wilson’s disease. WB Saunders, Philadelphia

    Google Scholar 

  25. Small KW, Letson R, Scheinman J (1990) Ocular findings in primary hyperoxaluria. Arch Ophthalmol 108:89–93

    Google Scholar 

  26. Tsilou ET, Rubin BI, Reed GF et al (2002) Age-related prevalence of anterior segment complications in patients with nephropathic cystinosis. Cornea 21:173–176

    Google Scholar 

  27. Tyni T, Kivela T, Lappi M et al (1998) Ophthalmic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G 1528 C mutation: A new type of hereditary metabolic chorioretinopathy. Ophthalmology 105:810–824

    Google Scholar 

  28. Wong VG (1976) Ocular manifestations in cystinosis. Birth Defects Orig Artic Ser 12:181–186

    Google Scholar 

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Gerding, H. (2014). Okuläre Befunde. In: vom Dahl, S., Lammert, F., Ullrich, K., Wendel, U. (eds) Angeborene Stoffwechselkrankheiten bei Erwachsenen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-45188-1_12

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  • DOI: https://doi.org/10.1007/978-3-642-45188-1_12

  • Publisher Name: Springer, Berlin, Heidelberg

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