Abstract
The clinical and histopathological findings are described in a case of cerebral and ocular abnormalities associated with (congenital) muscular dystrophy.
Histopathological examination of the eyes revealed a fetal configuration of the anterior chamber angle, elongated ciliary processes, cataract, persistence of primary hyperplastic vitreous and total retinal detachment with retinal dysplasia. The similarity of ocular findings in Walker-Warburg syndrome, muscle-eye-brain disease and Fukuyama's congenital muscular dystrophy, and the role of growth factors as a possible unifying (foetal) cause are discussed.
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This case has been presented at the meeting of the EOPS Verhoeff Society, Nürnberg 1991.
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Sanders, D.G.M., Mooy, C.M. Ocular findings in Cerebro-Ocular-Myopathy syndrome (COMS). Int Ophthalmol 17, 223–228 (1993). https://doi.org/10.1007/BF01007744
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DOI: https://doi.org/10.1007/BF01007744