Literature DB >> 23636104

Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome.

Collin McClelland1, Ryan D Walsh, Kudakwashe R Chikwava, Mark P Johnson, Peter Mattei, Grant T Liu.   

Abstract

We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding the pathogenesis of MMIHS.

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Year:  2013        PMID： 23636104     DOI： 10.1097/WNO.0b013e31828b7d65

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


  3 in total

1.  Bilateral congenital mydriasis in a child case.

Authors:  Bengi Ece Kurtul; Pınar Altıaylık Özer; Ayla Akca Çağlar; Emrah Utku Kabataş
Journal:  Turk Pediatri Ars       Date:  2016-09-01

2.  Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Carolina Araujo Moreno; Nara Sobreira; Elizabeth Pugh; Peng Zhang; Gary Steel; Fábio Rossi Torres; Denise Pontes Cavalcanti
Journal:  Eur J Hum Genet       Date:  2018-02-16       Impact factor: 4.246

3.  High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Authors:  Aisling B Mc Glacken-Byrne; David Prentice; Danial Roshandel; Michael R Brown; Philip Tuch; Kyle S-Y Yau; Padma Sivadorai; Mark R Davis; Nigel G Laing; Fred K Chen
Journal:  BMC Ophthalmol       Date:  2020-02-24       Impact factor: 2.209
  3 in total

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