Literature DB >> 1018203

Ocular pathology of Lowe's syndrome in a female infant.

B L Johnson, D A Hiles.   

Abstract

The ocular pathologic findings are presented in a case of a female infant with clinical and biochemical evidence of Lowe's syndrome. A small but increasing number of reports suggest that the mode of inheritance is not always sex-linked. The ocular histopathologic findings in the present case parallel those previously described for this syndrome. While the pathologic findings in other systems are variable, it is thought that the constellation of lens and anterior segment changes are sufficiently characteristic to identify cases of Lowe's syndrome.

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Year:  1976        PMID: 1018203

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol        ISSN: 0022-345X


  3 in total

1.  Oculo-cerebro-renal syndrome: failure to demonstrate specific neuropathological abnormalities in four cases.

Authors:  A K Banerjee; I V Allen; P McKee
Journal:  Ir J Med Sci       Date:  1982-02       Impact factor: 1.568

2.  [Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].

Authors:  G Rudolph; P Kalpadakis; W Röschinger; C Haritoglou; S Kammerer; K-P Boergen; A Kampik
Journal:  Ophthalmologe       Date:  2004-06       Impact factor: 1.059

3.  Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Authors:  Emilie Song; Na Luo; Jorge A Alvarado; Maria Lim; Cathleen Walnuss; Daniel Neely; Dan Spandau; Alireza Ghaffarieh; Yang Sun
Journal:  Sci Rep       Date:  2017-05-04       Impact factor: 4.379

  3 in total

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