Abstract
Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder
characterized by progressive muscular dystrophy and dysgenesis of the central nervous
system and eyes. To clarify the pathomechanism of the ocular involvement in FCMD,
we performed postmortem pathological analyses of eyes from three postnatal FCMD cases,
two fetal FCMD cases, and three control cases by macroscopic, histopathological, immunohistochemical
and in situ hybridization approaches. The macroscopic and histopathological examinations
revealed a variety of ocular abnormalities such as folding, fusion or dysplasia of
the retinas in the FCMD cases both with and without ophthalmological alterations.
Immunoreactivities for collagen IV and laminin, produced by Müller cells, as the basement
membrane components, were less intense in the inner limiting membrane of the FCMD
retinas than in that of the control retinas. A number of the perivascular glial cells
containing S-100 protein and glial fibrillary acidic protein were increased in the
postnatal FCMD cases. Immunoreactivities for vimentin, glutamate transporter-1, glutamine
synthase and ornithine aminotransferase, expressed in the Müller cells, were undetectable
in the fetal FCMD retinas, and reduced in the postnatal FCMD retinas compared with
the control retinas. Fukutin mRNA signals were distributed diffusely in the retinoblast
layer of the control retinas, focally in the retinoblast layer of the fetal FCMD retinas,
and only in the dysplastic areas with rosette formation of the postnatal FCMD retinas,
composed of retinoblasts and other retinal cells including the Müller cells. The present
findings suggest that the Müller cells are implicated in the retinal pathology of
FCMD.
Keywords
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Article info
Publication history
Accepted:
January 11,
2001
Received in revised form:
January 11,
2001
Received:
October 26,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
