Ocular findings in Fukuyama type congenital muscular dystrophy

In Fukuyama type congenital muscular dystrophy (FCMD), congenital muscular dystrophy and anomalies of the central nervous system are regarded as the major features, but the existence of ocular lesions has hardly been recognized as being important. In the present study, close ophthalmologic examinations were performed on 11 patients with FCMD, and we found myopia, weakness of the orbicularis oculi, congenital nystagmus, cortical blindness, optic atrophy, chorioretinal degeneration, etc. In particular, the chorioretinal degeneration observed in the ocular fundus was considered to be specific to FCMD. It is thought that these ocular lesions or changes are caused by the same mechanism as that involved in the central nervous system anomalies.