Literature DB >> 2618965

Ocular findings in Fukuyama type congenital muscular dystrophy.

A Tsutsumi1, Y Uchida, M Osawa, Y Fukuyama.   

Abstract

In Fukuyama type congenital muscular dystrophy (FCMD), congenital muscular dystrophy and anomalies of the central nervous system are regarded as the major features, but the existence of ocular lesions has hardly been recognized as being important. In the present study, close ophthalmologic examinations were performed on 11 patients with FCMD, and we found myopia, weakness of the orbicularis oculi, congenital nystagmus, cortical blindness, optic atrophy, chorioretinal degeneration, etc. In particular, the chorioretinal degeneration observed in the ocular fundus was considered to be specific to FCMD. It is thought that these ocular lesions or changes are caused by the same mechanism as that involved in the central nervous system anomalies.

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Year:  1989        PMID: 2618965     DOI: 10.1016/s0387-7604(89)80026-9

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  6 in total

1.  Ocular findings in Walker-Warburg syndrome.

Authors:  H Gerding; F Gullotta; K Kuchelmeister; H Busse
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

2.  Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.

Authors:  Q H Leyten; K Renkawek; W O Renier; F J Gabreëls; C M Mooy; H J ter Laak; R A Mullaart
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

3.  Ocular findings in cerebro-ocular-myopathy syndrome (COMS). A possible role of growth factors?

Authors:  D G Sanders; C M Mooy
Journal:  Int Ophthalmol       Date:  1993-08       Impact factor: 2.031

Review 4.  Congenital muscular dystrophy: from muscle to brain.

Authors:  Raffaele Falsaperla; Andrea D Praticò; Martino Ruggieri; Enrico Parano; Renata Rizzo; Giovanni Corsello; Giovanna Vitaliti; Piero Pavone
Journal:  Ital J Pediatr       Date:  2016-08-31       Impact factor: 2.638

5.  Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome.

Authors:  Natsuko Mano; Tatsuma Mitsutsuji; Yamato Yoshikawa; Makiko Miyamoto; Hiroko Watanabe; Kazuhiro Shimizu; Michiko Miki; Masashi Mimura; Mari Ueki; Tsunehiko Ikeda
Journal:  Case Rep Ophthalmol       Date:  2015-06-26

6.  Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models.

Authors:  Andrea J Arreguin; Holly Colognato
Journal:  Front Mol Neurosci       Date:  2020-07-23       Impact factor: 5.639

  6 in total

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