[Clinical heterogeneity in patients with ocular myopathies]

We present the results of clinical, electrophysiological, and biopsy studies in patients with ocular myopathy. Nine patients (four women and five men) were included in these investigations. According to the biopsy findings the patients were divided into patients with oculocraniosomaltic syndrome (OCSS) and patients with oculopharyngeal muscular dystrophy (OPMD). The presented clinical features, especially in the OCSS groups was more variable. Associated neurological and multisystem disturbances were characteristic of OCSS. Biopsy findings were of essential significance in distinguish these two conditions, especially in cases of the late onset.