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Late-onset retinal dystrophy in α-mannosidosis

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Abstract

α-Mannosidosis is a rare lysosomal storage disease that is caused by an inherited deficiency of the lysosomal α-mannosidase. Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly. Only few cases with ocular symptoms have been reported, mainly with lenticular opacities. We report on two brothers with complex neurological symptoms who presented with late-onset retinal dystrophy and were followed up for 6 years.

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References

  1. Arbisser AI, Murphree AL, Garcia CA, Howell RR (1976) Ocular findings in mannosidosis. Am J Ophthalmol 82:465–471

    PubMed  CAS  Google Scholar 

  2. Bennet JK, Dembure PP, Elsas LJ (1995) Clinical and biochemical analysis of two families with type I and type II mannosidosis. Am J Med Genet 55:21–26

    Article  PubMed  CAS  Google Scholar 

  3. Jolly RD, Shimada A, Dalefield RR, Slack PM (1987) Mannosidosis: ocular lesions in the bovine model. Curr Eye Res 9:1073–1078

    Article  Google Scholar 

  4. Oeckerman PA (1967) A generalized storage disorder resembling Hurler’s syndrome. Lancet 2:239–241

    Article  Google Scholar 

  5. Wong LTK, Vallance H, Savage A, Davidson AGF, Applegarth D (1993) Oral zinc therapy in the treatment of alpha-mannosidosis. Am J Med Genet 46:410–414

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Ophthalmology, University of Heidelberg, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany

    Christina Springer & Klaus Rohrschneider

  2. Department of Neurology, University of Heidelberg, Heidelberg, Germany

    Alexander Gutschalk & Hans-Michael Meinck

Authors
  1. Christina Springer
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  2. Alexander Gutschalk
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  3. Hans-Michael Meinck
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  4. Klaus Rohrschneider
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Correspondence to Klaus Rohrschneider.

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Springer, C., Gutschalk, A., Meinck, HM. et al. Late-onset retinal dystrophy in α-mannosidosis. Graefe's Arch Clin Exp Ophthalmo 243, 1277–1279 (2005). https://doi.org/10.1007/s00417-004-1084-7

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  • DOI: https://doi.org/10.1007/s00417-004-1084-7

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