TY - JOUR
T1 - Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy
AU - Hino, Naomi
AU - Kobayashi, Makio
AU - Shibata, Noriyuki
AU - Yamamoto, Tomoko
AU - Saito, Kayoko
AU - Osawa, Makiko
N1 - Funding Information:
The authors thank Dr Kenichiro Kaneko for introducing case 3 to our hospital and are indebted to Yoichiro Kato for valuable advice and encouragement. Thanks also to M. Karita, H. Takeiri, N. Sakayori and S. Iwasaki for their excellent technical assistance. The study was supported, in partially, by a grant (grant no. 11-1) for muscular dystrophy from the Ministry of Health, Welfare and Sports.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - Autopsy
KW - Eye
KW - Fukutin
KW - Fukuyama type congenital muscular dystrophy
KW - Immunohistochemistry
KW - In situ hybridization
KW - Müller cells
KW - Retinal dysplasia
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U2 - 10.1016/S0387-7604(01)00189-9
DO - 10.1016/S0387-7604(01)00189-9
M3 - Article
C2 - 11248458
AN - SCOPUS:0035114011
VL - 23
SP - 97
EP - 107
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 2
ER -