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PubMed2002

Chronic progressive external ophthalmoplegia.

Chronic progressive external ophthalmoplegia (CPEO) is a descriptive term for a heterogenous group of disorders characterized by chronic, progressive, bilateral, and usually symmetric ocular motility deficit and ptosis. Significant pain, proptosis, or pupil involvement are not features of CPEO and should prompt evaluation for alternative etiologies. Mitochondrial DNA mutations are increasingly being recognized as the etiology for CPEO syndromes. Clinicians should recognize the specific syndromes associated with CPEO, characterized by variable systemic, neurologic, or other findings. Treatment is limited, but newer therapies are being investigated.

DNA, Mitochondrial↗

PubMed1985

Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia.

Chronic progressive external ophthalmoplegia (CPEO) associated with proximal myopathy and/or craniosomatic abnormalities is a rare syndrome in which morphological mitochondrial changes have been found in some fibres (subsarcolemmal accumulation of mitochondria or "ragged red" fibres). We report a 14-year-old boy with CPEO and a mild proximal myopathy without these characteristic "ragged red" fibres. Histochemistry of skeletal muscle showed a mosaic of fibres without detectable cytochrome oxidase activity, while other mitochondrial enzymes were normal. The total cytochrome oxidase activity and cytochrome aa3 concentration in muscle mitochondrial fractions were only 40% of normal. This case is unique in that a biochemical defect was not accompanied by morphological abnormalities and may represent an early stage of CPEO before the development of morphological changes, or alternatively, a new variant of the disease.

Adolescent↗

PubMed2001

Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.

BACKGROUND: Chronic Progressive External Ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so. CASE REPORT: We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.

Blepharoptosis↗

PubMed1997

Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia.

BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO), which includes Kearns-Sayre syndrome, is a mitochondrial disorder with large deletions of mitochondrial DNA. Recently, mtDNA deletions in cardiac muscle cells were thought to be a cause of dilated cardiomyopathy. However, the cardiac involvement in patients with CPEO is generally considered to be limited to the cardiac conduction system. HYPOTHESIS: The purpose of this study was to evaluate left ventricular function in patients with CPEO. METHODS: We evaluated the cardiac function of five patients with CPEO by means of carotid pulse recording and Doppler echocardiography. RESULTS: The ratio of the pre-ejection period to ejection time was increased to 0.67 in one patient and to 0.50 in another. Echocardiography showed left ventricular dilatation and diffuse hypokinetic wall motion in both cases. Left ventricular fractional shortening was decreased to 5 and 19%, respectively, and the mean rate of circumferential shortening was decreased to 0.12 and 0.63 circ/s, respectively. One of the two patient died of congestive heart failure 2 months after the study. The Doppler pattern of left ventricular filling in the three remaining patients showed a decrease in the ratio of peak flow velocity in early diastole to that in late diastole, with an increase in deceleration time. CONCLUSION: Although cardiac involvement in patients with CPEO is generally considered to be limited to the cardiac conduction system, left ventricular dysfunction may be present and should receive more attention in the management of patients with CPEO.

Adult↗

PubMed2006

Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia.

UNLABELLED: Chronic progressive external ophthalmoplegia (CPEO) is a neuromyopathic disorder characterized by progressive weakness of the extraocular and levator muscles, which causes blepharoptosis and impairment of ocular motility. Because of the risk of worsening of lagophthalmos and exposure keratitis due to an associated poor Bell phenomenon or weak orbicularis function, surgical treatment of the blepharoptosis caused by CPEO is problematic. We present our experience with a case of blepharoptosis in CPEO. CASE: A 61-year-old woman presented with slowly progressive bilateral blepharoptosis. A muscle biopsy of the rectus femoris revealed mitochondrial abnormalities, which satisfied the definition of the diagnosis of CPEO as mitochondrial encephalomyopathy. The lid opening was 2 mm, with maximal frontalis contraction, the levator function was zero, and the eyeball movement was severely limited. The blow movement was about 6 mm. Combination of modest blepharoplasty and frontalis suspension using a monofilament suture was performed. The postoperative result was satisfactory, and the patient's quality of life was markedly improved.

Biopsy↗

PubMed2004

[Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].

BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial cytopathy presenting with ptosis and external ophthalmoparesis. Mitochondrial disorders are characterized by a broad clinical spectrum and genetic background with marked genotype/phenotype variability. The routine diagnostic work-up usually includes clinical and laboratory examinations as well as histological and histochemical analysis of skeletal muscle biopsy. In our case only an additional molecular biological examination allowed the diagnosis of CPEO. PATIENT AND METHODS: We report a 35-year-old woman with a 7-years history of slowly progressive diplopia due to impaired ocular motility and bilateral ptosis. We performed ophthalmological and neurological examinations, laboratory testing, lower limb skeletal muscle biopsy including histological and histochemical investigations, biochemical analysis of respiratory chain enzymes in skeletal muscle homogenate and molecular genetic testing of skeletal muscle DNA. RESULTS: Although clinical, laboratory, histological and biochemical analyses did not give any hints suggesting a mitochondrial cytopathy, molecular genetic testing of total DNA from skeletal muscle tissue by Southern blot analysis finally revealed a 3.8 kb mitochondrial DNA deletion with a degree of heteroplasmy of 45 %. CONCLUSIONS: In patients with unexplained binocular diplopia , oculomotor deficits and/or acquired ptosis, an underlying mitochondrial cytopathy should be considered. Even in the case of inconspicuous skeletal muscle histology and biochemistry, molecular genetic testing of skeletal muscle DNA is advisable in order to establish the diagnosis.

Adult↗

PubMed1997

Chronic progressive external ophthalmoplegia.

Two cases of chronic progressive external ophthalmoplegia were described. Both of them presented with progressive bilateral ptosis and gradual impairment of ocular mobility. One of the patients had abnormal cerebrospinal fluid protein level. Another patient had muscle biopsy which was compatible with mitochondrial myopathy. Other possible causes of chronic progressive external ophthalmoplegia had been excluded by appropriate investigations. Chronic progressive external ophthalmoplegia is now considered as one type of mitochondrial diseases. Missed diagnosis of this syndrome is common in clinical practice.

Adult↗

PubMed1987

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.

Adult↗

PubMed2000

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.

Adult↗

PubMedDate not supplied

[A single deletion of mitochondrial DNA in a Brazilian patient with chronic progressive external ophthalmoplegia].

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a sporadic case of chronic progressive external ophthalmoplegia that began at age 19 years and was associated with ragged red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4237 bp that encompasses the nucleotide positions 9486 to 13722, a location that has not been described before, and flanked by a direct repeat sequence. The deletion is flanked by a direct repeat. CONCLUSIONS: The amount of deleted mitochondrial DNA (55%) in this patient's muscle suggests that this deletion is the molecular cause of the phenotypic presentation of this patient.

Adult↗

PubMed2001

The evaluation of chronic progressive external ophthalmoplegia with computerized tomography.

INTRODUCTION: Chronic progressive external ophthalmoplegia is characterised by limitation of ocular motility in all directions of gaze and ptosis. Innervational or myogenic factors were claimed to be responsible for this motility disorder. The aim of this study was to investigate the extraocular muscles in CPEO with computerized tomography in an attempt to distinguish extraocular muscle morphology caused by this disorder from that occurring in normal individuals. METHODS: Eighteen orbits from 9 patients diagnosed with CPEO were included in the study. Axial and coronal scans were obtained for CT evaluation of extraocular muscles and the dimensions of extraocular muscles were measured. The control group consisted of 40 orbits belonging to 20 individuals and, the results were compared with a student's t test. RESULTS: The thickness (the vertical dimension of vertical recti and the horizontal dimension of horizontal recti) of all rectus muscles was significantly decreased in comparison with the control group, whereas the width (the horizontal dimension of vertical recti and the vertical dimension of horizontal recti) was similar in both the diseased and normal orbits. In all the rectus muscles of the diseased orbits, the normal fusiform shape was lost and the muscles appeared as thin bands. DISCUSSION: The differentiation of CPEO from other myogenic and neurogenic disorders may present difficulty, and a cluster of criteria are required for a final diagnosis. CT has proven to be a valuable tool in assessing extraocular muscles [1, 2]. In this study, an extreme atrophy of all rectus muscles was demonstrated by means of CT. This diagnostic method may consequently contribute to a proper diagnosis of CPEO.

Adult↗

PubMed2006

Orbital magnetic resonance imaging of extraocular muscles in chronic progressive external ophthalmoplegia: specific diagnostic findings.

INTRODUCTION: Chronic progressive external ophthalmoplegia (CPEO) is characterized by slowly progressive bilateral ophthalmoplegia and blepharoptosis. Molecular diagnosis is problematic because sporadic mitochondrial DNA deletions can be causative. We sought findings using magnetic resonance imaging (MRI) that might support the diagnosis of CPEO. METHODS: Two men (ages 31 and 47 years) and 3 women (ages 40-49 years) with CPEO and symptom durations of 8 months to 28 years underwent high-resolution (2-mm slice thickness, 312 micron pixels), surface coil, T1-weighted orbital MRI in coronal planes. Images were analyzed quantitatively to determine extraocular muscle (EOM) sizes and were compared with 10 age- and gender-matched normal volunteers, one subject with myasthenia gravis, and with 30 subjects having EOM paralysis caused by oculomotor, trochlear,0 and abducens neuropathies. RESULTS: EOM function was clinically diminished in CPEO, most markedly for the superior rectus (SR) and levator muscles. All EOMs in CPEO exhibited unusual qualitative T1 MRI signal abnormalities. Unlike the profound EOM atrophy typical of neurogenic paralysis, anterior volumes of medial rectus, lateral rectus, and inferior rectus muscles in CPEO were not smaller than normal (p>0.003). Anterior volumes of the SR muscle-levator complex and superior oblique were significantly reduced (p<0.003). Denervated EOMs exhibited statistically significant volume reduction when compared with normal and CPEO groups. Volume of the SR muscle-levator complex was the same in subjects with CPEO and oculomotor palsies. CONCLUSIONS: CPEO is associated with minimal EOM volume reduction despite clinically severe weakness. This combination of findings may be specific for CPEO and could resolve the diagnostic dilemma in difficult cases.

Abducens Nerve Diseases↗

PubMed1984

[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.

Adult↗

PubMedDate not supplied

[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. CONCLUSIONS: The amount of deleted mitochondrial DNA (15%) in this patient's muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited.

Adolescent↗

PubMed1993

[Multiple mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO)].

We reviewed familial cases of chronic progressive external ophthalmoplegia (CPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. A new case of familial CPEO with multiple mtDNA deletions, which were detected in the proband's skeletal muscles by Southern blotting and in all the tissues examined by using the polymerase chain reaction is also described. There was an approximate correlation between the clinical severity of the muscle involvement and the amount of mtDNA with deletions. Most of these familial CPEO cases, with multiple mtDNA deletions, exhibited an autosomal dominant mode of transmission. Abnormalities of some nucleus-driven factors, involved in the replication of mtDNA, may result in these multiple mtDNA deletions.

Base Sequence↗

PubMed2001

[Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with differing genetics].

UNLABELLED: Chronic progressive external ophthalmoplegia (CPEO) is considered the most frequent form of mitochondrial encephalomyopathies. Most cases occur sporadically. We investigated 18 consecutive patients with CPEO. Thirteen cases were sporadic and five cases were familial. In one family with maternal inheritance the mitochondrial point mutation A3243G was identified. In index patients of three other families multiple deletions of mitochondrial DNA were found. One of these families showed autosomal recessive inheritance. In the two other pedigrees a definitive determination of the mode of inheritance was impossible. The fifth family revealed autosomal dominant or maternal inheritance. In their index patient no alteration of mitochondrial DNA could be identified (including sequencing of hot spots for mitochondrial mutations). CONCLUSIONS: CPEO was familial in 28% of our patients. There are three different modes of inheritance: (i) maternal transmission associated with mitochondrial point mutations as it is known for other mitochondrial disorders, (ii) autosomal recessive, and (iii) autosomal dominant inheritance. In contrast to sporadic cases with single mitochondrial deletions autosomal inheritance can be associated with multiple deletions of mitochondrial DNA. They are due to so far unknown nuclear mutations.

Adult↗

PubMed1985

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.

Adult↗

PubMed1993

[A case of chronic progressive external ophthalmoplegia with pituitary hypothyroidism].

We report a case of chronic progressive external ophthalmoplegia with pituitary hypothyroidism. This patient had complained of hearing-loss at the age of fourteen and loss of body weight at fifteen. She was examined by otorhinolaryngologists at large hospitals yearly over a period of 5-6 years, but hearing-loss remained unknown. As her ophthalmoplegia progressed (as is evident from family photographs from the age of sixteen onward), with hindsight it should have been recognized. When examined on October 11, 1991, she complained of ptosis, speech disturbance and dysphagia at the age of thirty-four. Neurological examination revealed limitation of ocular movement, bilateral ophthalmoplegia, facial muscle atrophy, and weak gag reflex. She showed muscle atrophy in her neck including both sternocleidomastoid, major and minor rhomboid, girdle and distal parts of upper and lower extremities. Muscle biopsy of her biceps demonstrated ragged-red fibers, cytochrome c oxidase (CCO) deficient fibers and deletion of mitochondrial DNA. A plain CT scan revealed bilateral periventricular lucency, and a brain MR image showed a normal sized pituitary gland but diffuse high-signal intensities in the both periventricular white matter with proton density weighted and T2-weighted axial MR image. And also her electroencephalogram showed diffuse 7 Hz slow waves in all areas and increased slow waves by hyperventilation, and all waves from I to V of the auditory brain stem response disappeared. The effect of TRH on serum TSH secretion was not evident in this patient. This case was ascertained to be chronic progressive external ophthalmoplegia with pituitary hypothyroid function.

Adult↗