Literature DB >> 20119743

[Diffuse stromal corneal opacity and alterations of the hands].

I M Lanzl1, S-F Seidova, A Erben, K Thürmel, K Kotliar.   

Abstract

Bilateral stromal corneal opacity is a differential diagnostic challenge for ophthalmologists. In this article 2 female patients aged 30 and 36 years old, respectively, with different degrees of expression of stromal diffuse corneal opacity will be presented. Patient 1 was of short stature (114 cm) and patient 2 was 172 cm in size. Both patients exhibited altered joint structures of the hands and feet and diffuse stromal corneal opacity. Furthermore, patient 1 had both mitral and aortal insufficiencies and patient 2 an aorta insufficiency. The stromal diffuse corneal opacity was indicative of Schleie syndrome. For patients with reduced vision a lamellary keratoplasty is to be recommended.

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Year:  2010        PMID: 20119743     DOI: 10.1007/s00347-009-2066-2

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  10 in total

Review 1.  Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.

Authors:  B Hoffmann; E Mayatepek
Journal:  Neuropediatrics       Date:  2005-10       Impact factor: 1.947

Review 2.  The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.

Authors:  James Edward Wraith
Journal:  Expert Opin Pharmacother       Date:  2005-03       Impact factor: 3.889

3.  Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.

Authors:  H Kresse; K von Figura; U Klein; J Glössl; E Paschke; R Pohlmann
Journal:  Methods Enzymol       Date:  1982       Impact factor: 1.600

4.  The ocular features of the mucopolysaccharidoses.

Authors:  J L Ashworth; S Biswas; E Wraith; I C Lloyd
Journal:  Eye (Lond)       Date:  2006-05       Impact factor: 3.775

5.  Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses.

Authors:  M L Collins; E I Traboulsi; I H Maumenee
Journal:  Ophthalmology       Date:  1990-11       Impact factor: 12.079

6.  Electroretinographic findings in the mucopolysaccharidoses.

Authors:  R C Caruso; M I Kaiser-Kupfer; J Muenzer; I H Ludwig; M A Zasloff; P A Mercer
Journal:  Ophthalmology       Date:  1986-12       Impact factor: 12.079

Review 7.  Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.

Authors:  Nancy J Terlato; Gerald F Cox
Journal:  Genet Med       Date:  2003 Jul-Aug       Impact factor: 8.822

8.  Central corneal thickness and its relationship to intraocular pressure in mucopolysaccararidoses-1 following bone marrow transplantation.

Authors:  Paul Connell; Kathryn McCreery; Aoife Doyle; Fiona Darcy; Anne O'Meara; Donal Brosnahan
Journal:  J AAPOS       Date:  2007-06-25       Impact factor: 1.220

9.  [Mucopolysaccharidosis type I in the Cuban population].

Authors:  C Menéndez-Sainz; C Zaldívar-Muñoz; A González-Quevedo
Journal:  Rev Neurol       Date:  2003 Sep 16-30       Impact factor: 0.870

10.  [Compound Hurler-Scheie disease in 3 siblings].

Authors:  G Goldberg; P Grützner
Journal:  Klin Monbl Augenheilkd       Date:  1985-08       Impact factor: 0.700

  10 in total

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