Management of ptosis in chronic progressive external ophthalmoplegia

Patients with chronic progressive external ophthalmoplegia (CPEO) are often disabled by ptosis; however, conventional ptosis surgery may induce lagophthalmos and exposure keratitis. Ten patients with CPEO underwent ptosis correction via bilateral frontalis suspensions, using monofilament synthetic material. Three of these patients were also treated with lower eyelid horizontal tightening. The frontalis sling was adjusted to provide a firm linkage between the eyebrow and eyelid, but was loose enough to allow eyelid closure when the frontalis muscle is relaxed. All patients experienced lessening of ptosis and relief from visual obstruction. One patient required reoperation of one eyelid for undercorrection. No lagophthalmos or corneal complications occurred. The rationale for treatment, preoperative evaluation, and operative procedure in CPEO is discussed herein.     

Lower eyelid extension-plasty in patients with ptosis in chronic progressive external ophthalmoplegia

Correction of ptosis in patients with chronic progressive ophthalmoplegia is problematic because the ptosis enlarges the palpebral fissure and aggravates the lagophthalmos. Additional lifting of the lower lids, which are often retracted, therefore seems advisable. Experience with various lower lid elongation techniques is reported.     

Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia

PURPOSE: To report chronic exposure keratopathy related to surgical ptosis correction in patients with chronic, progressive, external ophthalmoplegia. METHODS: Case reports of three patients with chronic exposure keratopathy following blepharoptosis surgery. RESULTS: We report three patients with chronic progressive external ophthalmoplegia with chronic corneal complications after surgical ptosis repair. All three gave a history of blepharoptosis and extraocular muscle dysfunction. Each presented with chronic corneal ulceration. All had histories suggestive of ophthalmoplegia. Treatment of corneal ulceration necessitated hospitalization and surgical intervention. CONCLUSION: Patients with chronic, progressive, external ophthalmoplegia have little ability to properly protect the eye from exposure and are at risk for corneal damage. A thorough ophthalmic history and examination before ptosis surgery may prevent the corneal complications resulting from surgical intervention.     

Update on chronic progressive external ophthalmoplegia

Mitochondrial encephalomyopathies are clinically and genetically heterogeneous disorders. External ophthalmoplegia is the most frequent symptom. Other frequently involved tissues and organs include the retina, heart, limb muscles, peripheral and central nervous system, inner ear and endocrine system. The diagnosis is based on the finding of elevated serum lactate, the characteristic histopathological changes in the muscle biopsy, and decreased activities of mitochondrial respiratory chain enzymes. In many cases, the underlying molecular defect in the mtDNA can be identified. The efficacy of pharmacological therapies (e.g., coenzyme Q) has not been established so far. Symptomatic ophthalmological treatment includes ptosis and strabismus surgery. Early cardiac pacemaker implantation may be life-saving.     

Intracranial hypotension mimicking chronic progressive external ophthalmoplegia

Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the ICH. The authors describe an unusual case of a 64-year-old woman who presented with rapid onset of headaches, bilateral upper-lid ptosis, and blurring of vision within 4 days after sustaining a trivial head injury. She was noted to have bilateral symmetrical ophthalmoplegia and ptosis-simulating chronic progressive external ophthalmoplegia. MRI revealed characteristic features of ICH. Subsequent autologous epidural patch therapy led to resolution of the headache and imaging findings; however, her ptosis and motility disorder persisted. Despite existing therapeutic measures for ICH, irreversible cranial nerve damage may ensue due to significant cerebral decent or ischemic injury.     

Ocular motility findings in chronic progressive external ophthalmoplegia

AIMS: To characterise the ocular motility features of chronic progressive external opthalmoplegia by quantitative and semiquantitative means. To assess the prevalence of diplopia and the binocular adaptations to nonaligned visual axes. METHOD: We studied 25 patients with chronic progressive external ophthalmoplegia. In each case muscle biopsies were consistent with mitochondrial myopathy. All patients underwent cover test in the primary position, assessment of binocular status, and measurement of uniocular fields of fixation using the Goldmann perimeter. RESULTS: A total of 23 (92%) patients had an exo-deviation, with six (26%) of those having an associated vertical deviation: 12 patients were binocular. Of the 13 patients with a manifest deviation seven had diplopia and six had suppression. Of all paired extra-ocular muscles (EOM), 68% had symmetry of movement within 5 degrees of each other. CONCLUSION: Almost all patients had an exo-deviation. Diplopia was more common than expected. The majority of patients had symmetry of EOM limitation.     

ERG and VECP in chronic progressive external ophthalmoplegia

Eleven patients suffering from chronic progressive external ophthalmoplegia (CPEO) were examined by means of electroretinography (ERG) and the visually evoked cortical potential (VECP) with flash and checkerboard-reversal stimuli. One patient exhibited a Kearns-Sayre syndrome, and in two patients fundoscopy revealed pigmentary retinopathy; the fundi of the other 8 patients were normal. In 3 of the patients with pigmentary retinopathy the ERG was slightly disturbed or normal, the P100 latency in the VECP being normal. In three out of 8 patients without retinal pigmentary changes the ERG indicated retinopathy. In 2 cases this was the only finding offering an explanation for the reduced visual acuity. One patient exhibited a considerably prolonged P100 latency in the pattern-reversal VECP of one eye, which might have been indicative of lesions of the visual pathway associated with CPEO.     

Assessment of visual function in chronic progressive external ophthalmoplegia

AIMS: To assess the visual function of patients with chronic progressive external ophthalmoplegia (CPEO) using the Visual Function Index (VF-14). To identify discriminatory questions that reflect visual disability in mitochondrial ocular myopathies. To investigate the relationship between visual impairment and the ocular parameters routinely measured in clinical practice. METHODS: We studied 40 CPEO patients. Each patient underwent ophthalmological assessment, including best-corrected visual acuity, ptosis measures, and fundus examination for pigmentary retinopathy, and orthoptic assessment including cover test in the primary position, assessment of diplopia, and measurement of uniocular fields of fixation using the Goldmann perimeter. Patients were interviewed by telephone by an independent observer and their visual function was assessed using the VF-14. RESULTS: A total of 38 patients (95%) were visually impaired. The mean VF-14 was 72 (95% CI 66-79). Patients reported having the most difficulty with reading small print and driving at night. No significant correlation was found between the VF-14 and ocular motility parameters, ptosis, or pigmentary retinopathy. CONCLUSIONS: CPEO is associated with significant visual impairment. Measures of visual disability should be included in studies of natural history and treatment of mitochondrial ocular myopathies.     

Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia

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 mitochondrial DNA. Genetic testing revealed a heteroplasmic macrodeletion of about 5.0 kilobases in length, localized between the 9570- and 14619-base pair regions. Electron microscopy revealed focal areas of both disruption and abnormality of mitochondria in only some of the muscle fibers, producing "selective vacuolization." This ultrastructural pattern was highly selective and limited to some extraocular muscle fibers, sparing all the others. The "selective damage" observed in this case of CPEO resembles that case occurring in another mitochondrial disease, Leber hereditary optic neuropathy, where damage occurs only in the papillomacular bundle of the retina, sparing peripheral axons. It is possible that some anatomical and physiological factors play a leading role in both Leber hereditary optic neuropathy and ocular myopathies. The ultrastructural aspect herein observed needs to be further investigated to better understand whether a particular muscle fiber type is the target of mitochondrial impairment in CPEO.     

Surgical treatment in a case of chronic progressive external ophthalmoplegia

PURPOSE/METHODS: The purpose is to discuss the surgical result in a case with chronic progressive external ophthalmoplegia (CPEO) associated with strabismus and diplopia. The authors present a patient with mitochondrial myopathy and CPEO who was treated using adjustable recessions with local anaesthesia. RESULTS/CONCLUSIONS: Five months after surgery improvement in ductions were maintained and there was no diplopia or torticollis. We support operating these cases with CPEO associated with strabismus. The adjustable suture technique allowed us a satisfactory result in immediate postoperative.     

Lid retraction in chronic progressive external ophthalmoplegia (author's transl)]

Three cases with chronic progressive external ophthalmoplegia are presented. They showed an upper lid, retraction which was due to a better preservation of lid elevator function as compared to ocular elevator function.     

ERG and VECP in chronic progressive external ophthalmoplegia (CPEO)

Eleven patients suffering from chronic progressive external ophthalmoplegia (CPEO) were investigated by means of electroretinograms (ERG) and visually evoked cortical potentials (VECP) to flash and checkerboard-reversal stimuli. One patient exhibited a Kearns syndrome, in two patients fundoscopy revealed pigmentary retinopathy, and the other eight patients had normal fundi. In the three patients with pigmentary retinopathy the ERGs were slightly disturbed or normal, the P₁₀₀-latencies in the VECPs being normal. Three out of eight patients without pigmentary changes had reduced ERGs indicating unsuspected retinopathy. This nonpigmentary retinopathy was only detected by means of ERG and may be the electrophysiological correlate of a reduced visual acuity. One patient had a considerably prolonged P₁₀₀-latency in the pattern-reversal VECP of one eye, which may indicate lesions of the visual pathway along with CPEO.     

A case of chronic progressive external ophthalmoplegia with Oguchi's disease]

A 52-year-old case of chronic external ophthalmoplegia accompanied by Oguchi's disease was reported. The patient noticed night blindness and deafness since childhood. Later he developed ocular movement limitation to all directions by the age of 40. He had 20/20 corrected visual acuity and normal anterior segment, as well as normal color vision. Goldmann's perimetry showed generalized constriction of the peripheral field. Golden tapetal reflex without dark adaptation disappeared after 4 hours of dark adaptation, i.e. Mizuo-Nakamura's phenomenon was recognized. Recovery of diminished a and b wave electroretinogram to the subnormal range was also observed after 4 hours of dark adaptation. Rod-cone interaction test revealed a monophasic adaptation, and no suppression to the cones from the rods was observed. This finding was also compatible with Oguchi's disease. ECG revealed incomplete atrio-ventricular as well as right bundle branch blocks. Neurological examination findings were entirely normal other than slight enhancement of deep tendon reflexes in the lower extremities and mixed typed difficulty of hearing. Muscle biopsy of the right medial rectus muscle revealed ragged-red fiber, suggesting mitochondrial abnormalities. Never the less the quadriceps femoris muscle biopsy specimen showed normal histological findings. This is the first case report of progressive external ophthalmoplegia associated with Oguchi's disease. Mitochondrial abnormality was confirmed only in the external ocular muscle. This case may be a variant of Kearns-Sayre syndrome.     

Diagnostic and therapeutic problems in chronic progressive external ophthalmoplegia (CPEO)

BACKGROUND: Strictly speaking, CPEO is defined as paralysis of the external ocular muscles combined with ptosis. In Kearns-Sayre syndrome additional neurological or muscular deficits can be observed, sometimes even decades after the onset of ocular symptoms. METHOD: Three patients with classical CPEO and one patient with Kearns-Sayre syndrome where included in the present study. The clinical examinations included electromyography, various serological parameters and histological biopsies. RESULTS: The onset of ocular symptoms with divergent strabism and ptosis could be dated back to the age of 7, 27, 38 and 44 years starting on one eye and progressing slowly over years to both eyes. In the Kearns-Sayre syndrome patient a general decrease in cardio-respiratory fitness and occasional collapses were noted. In three patients ptosis and strabism surgery led to the relief of the ocular symptoms. CONCLUSIONS: In CPEO respectively Kearns-Sayre syndrome the onset of the disease is variable. The final correct diagnosis is often delayed due to the mild beginning of the symptoms and the slow progression of the paralyses. Early EMG and muscle biopsy examination may facilitate the diagnosis.