title: Ocular findings in cerebro-ocular-myopathy syndrome (COMS). A possible role of growth factors?
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. This case has been presented at the meeting of the EOPS Verhoeff Society, Nürnberg 1991.
authors.affiliation: Department of Pathology, Erasmus University, The Netherlands.
authors.forename: D G
authors.initials: DG
authors.lastname: Sanders
authors.forename: C M
authors.initials: CM
authors.lastname: Mooy
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology* / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D005124:Eye Abnormalities / Q000209:etiology* / Q000473:pathology; D006133:Growth Substances / Q000502:physiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000209:etiology; D013577:Syndrome
chemical_list: D006133:Growth Substances