Literature DB >> 4004622

Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies.

M Palmer, W R Green, I H Maumenee, D L Valle, H S Singer, S J Morton, H W Moser.   

Abstract

The presence of lipid storage was demonstrated in type C Niemann-Pick disease by histopathologic and ultrastructural studies. Pleomorphic membranous inclusions, with variable proportions of light and dark granular material, were observed within the conjunctival fibrocytes, endothelial cells and pericytes, keratocytes, lens epithelium, retinal ganglion cells, retinal pigment epithelium, fibrocytes in the uveal tract, and optic nerve fibrous astrocytes. Only optic nerve and retinal ganglion cell involvement had clinical counterparts represented by optic nerve pallor and perimacular gray discoloration.

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Mesh：

Year:  1985        PMID： 4004622     DOI： 10.1001/archopht.1985.01050060077030

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  6 in total

Review 1.  Optic atrophies in metabolic disorders.

Authors:  Marjan Huizing; Brian P Brooks; Yair Anikster
Journal:  Mol Genet Metab       Date:  2005-09-27       Impact factor: 4.797

2.  Ultrastructural changes in the lung in Niemann-Pick type C mouse.

Authors:  T Manabe; T Yamane; Y Higashi; P G Pentchev; K Suzuki
Journal:  Virchows Arch       Date:  1995       Impact factor: 4.064

3.  Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.

Authors:  Marine Hovakimyan; Jana Petersen; Fabian Maass; Maria Reichard; Martin Witt; Jan Lukas; Oliver Stachs; Rudolf Guthoff; Arndt Rolfs; Andreas Wree
Journal:  PLoS One       Date:  2011-12-06       Impact factor: 3.240

4.  The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.

Authors:  Daria P Tsagaraki; Athanasios E Evangeliou; Miltiadis Tsilimbaris; Martha G Spilioti; Eleni P Mihailidou; Christos Lionis; Ioannis Pallikaris
Journal:  BMC Ophthalmol       Date:  2002-04-11       Impact factor: 2.209

5.  Retinal axonal degeneration in Niemann-Pick type C disease.

Authors:  Joachim Havla; Marlene Moser; Clara Sztatecsny; Amelie S Lotz-Havla; Esther M Maier; Baccara Hizli; Regina Schinner; Tania Kümpfel; Michael Strupp; Tatiana Bremova-Ertl; Susanne A Schneider
Journal:  J Neurol       Date:  2020-03-28       Impact factor: 4.849

6.  Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Authors:  Andrew Orr; Marie-Pierre Dubé; Julien Marcadier; Haiyan Jiang; Antonio Federico; Stanley George; Christopher Seamone; David Andrews; Paul Dubord; Simon Holland; Sylvie Provost; Vanessa Mongrain; Susan Evans; Brent Higgins; Sharen Bowman; Duane Guernsey; Mark Samuels
Journal:  PLoS One       Date:  2007-08-01       Impact factor: 3.240
  6 in total

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