Seventeen patients with ptosis as a feature of chronic progressive external ophthalmoplegia were managed in accordance with a new protocol. An anterior approach levator advancement was performed on seven patients (13 lids) with more than 4 mm of levator function and a brow suspension procedure on eight patients (14 lids) with minimal levator function, in whom the frontalis muscle was relatively...

Extraocular muscles are primarily involved in many mitochondrial diseases, but no reports exist regarding the morphological appearance of the muscles in cases of long-standing ocular myopathies. For this reason, muscle samples obtained from surgery in a sporadic case of chronic progressive external ophthalmoplegia (CPEO) were used for ultrastructural investigation and molecular analysis of mito...

PURPOSE Our goal was to determine whether the extraocular muscles in patients with chronic progressive external ophthalmoplegia (CPEO) could be distinguished from those of age-matched control subjects by MR imaging. METHODS Nine patients with CPEO and eight age-matched healthy control subjects were studied. The extraocular muscles of eight of the patients (16 eyes) and all the control subject...

The rare association of external ophthalmoplegia and ptosis with pigmentary degeneration of the retina was first described by Barnard and Scholz (I954) in a report of four cases. The subsequent literature was reviewed by Davidson (i960), 'who found that only eighteen cases had been described, and added one further case. Within this series he was able to define a relatively homogenous group of t...

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial cytopathy characterized by bilateral ptosis during adolescence, followed later by limitation of extraocular muscle movement and diplopia.1 The biochemical defect consists of mutations or deletions of mitochondrial DNA genes that encode respiratory chain enzymes involved in adenosine triphosphate (ATP) generation and its subs...

Chronic progressive external ophthalmoplegia (CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. We report a male patient who had a 20 year history of CPEO. Histological examination of left deltoid muscle showed characteristic ragged red fibers. Electron microscopy revealed a number of abnormal mitochondria which contain paracrystalline inclu...

To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, R...