Chronic Progressive External Ophthalmoplegia

Abstract

Knowledge of this disorder enables us to avoid the use of drugs with significant side effects in cases of ptosis and ophthalmoplegia that do not respond to anticholinesterases.

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

“…The main findings of this study are: (i) the most common genetic defect associated with PEO in patients with mitochondrial disease is a single mitochondrial DNA deletion, in line with previous studies (Zeviani et al , 1988; Holt et al , 1989; Moraes et al , 1989; Rodríguez-Hernández et al , 2000; Jiménez Caballero et al , 2007; Martikainen et al , 2012); (ii) peripheral neuropathy is a rare clinical feature in patients with a single mitochondrial DNA deletion; and (iii) in the present patient sample, among several individual clinical features, peripheral neuropathy was the most important in predicting the genetic defect in patients with PEO caused by mitochondrial disease, followed by family history and hearing loss.…”

“…Second, this was a single-centre study and the sample might not be representative of the whole patient population. However, the frequency distribution of genotypes among patients with PEO is similar to that observed in other case series (Holt et al , 1989; Jackson et al , 1995; Rodríguez-Hernández et al , 2000), studies based on single-centre experience (Jiménez Caballero et al , 2007), and population-based studies (Martikainen et al , 2012). In addition, to minimize selection biases, all patients with PEO and mitochondrial disease that were assessed at our centre and with clinical information available were included in the study.…”

A Prospective Study on 132 Cases of Ocular Palsy

“…A positive SF-EMG can occur in ocular MG and chronic progressive ophthalmoplegia (CPEO), but anamnestic data may help because a slow, progressive symmetric course without fluctuation favors a diagnosis of CPEO. However, in our CPEO series of 8 patients, one patient showed only diplopia, and lactate stress test resulted positive only in 5 cases; thus, the diagnosis was made only in patients with typical pathological and enzymological findings at muscle biopsy [17,18]. In two female patients, ocular ultrasound and orbit MRI showed a thickening of the extraocular muscles.…”

Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation

“…The majority of CPEO patients present homoplasmic large-scale ­mtDNA deletions, although the m.3243A>G mutation is also reported, albeit less frequently [11, 12]. Because the m.3243A>G mutation is associated with a variety of systemic manifestations other than classical symptoms, the mutation can lead to an atypical phenotype that is not concordant with classical criteria [13].…”