Literature DB >> 105334

Ophthalmologic aspects of lipid storage diseases.

R O Brady.   

Abstract

A cherry-red spot in the macular region of the fundus is the hallmark of the metabolic disorder known as Tay-Sachs disease. Ocular involvement is also a frequent concomitant of generalized gangliosidosis Niemann-Pick disease, and Fabry's disease. Ophthalmologists who are aware of these manifestations are often the first to derive the correct diagnosis in patients with these heritable conditions.

Entities:  

Mesh：

Year:  1978        PMID： 105334     DOI： 10.1016/s0161-6420(78)35592-5

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


  4 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

Review 2.  Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).

Authors:  Madhu M Ouseph; Mark E Kleinman; Qing Jun Wang
Journal:  Ann N Y Acad Sci       Date:  2016-01-08       Impact factor: 5.691

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.  Defects in the retina of Niemann-pick type C 1 mutant mice.

Authors:  Xin Yan; Lucy Ma; Marina Hovakimyan; Jan Lukas; Andreas Wree; Marcus Frank; Rudolf Guthoff; Arndt Rolfs; Martin Witt; Jiankai Luo
Journal:  BMC Neurosci       Date:  2014-11-29       Impact factor: 3.288
  4 in total

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