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

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. This case has been presented at the meeting of the EOPS Verhoeff Society, Nürnberg 1991.