scholarly journals Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up

2016 ◽  
Vol 40 (1) ◽  
pp. 44-46 ◽  
Author(s):  
Jennifer Murdock ◽  
Preeti J. Thyparampil ◽  
Michael T. Yen
Keyword(s):  
Late Onset ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia

scholarly journals Late-onset presentation of POLG1-associated mitochondrial disease

2019 ◽  
Vol 12 (3) ◽  
pp. e228482 ◽  
Author(s):  
Bruna Meira ◽  
Rafael Roque ◽  
Miguel Pinto ◽  
André Caetano
Keyword(s):  
Mitochondrial Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Manifestations ◽  
Progressive External Ophthalmoplegia ◽  
Clinical Feature ◽  
Gait Ataxia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Genetic Studies ◽  
In Cis

Mutations in the nuclear POLG1 gene compromise the integrity of mitochondrial DNA and show great allelic and clinical heterogeneity. Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. Other related clinical manifestations are sensory or cerebellar ataxia, peripheral neuropathy, myopathy or extrapyramidal symptoms. We report the case of a 72-year-old man who presented with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. Genetic studies showed a compound heterozygosity of known pathogenic mutations in the POLG1 gene (variant T252I/P587 L in cis configuration in allele 1 and variant R807C in allele 2). Late life presentation highlights that mitochondrial disorders should be considered regardless of age of onset of symptoms.

Surgical management of ptosis in chronic progressive external ophthalmoplegia

2020 ◽  
pp. 112067212095234
Author(s):  
Mohammad Eshaghi ◽  
Amir Arabi ◽  
Sarvin Eshaghi
Keyword(s):  
Tear Film ◽  
Progressive External Ophthalmoplegia ◽  
Palpebral Fissure ◽  
P Value ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Schirmer Test ◽  
Function Unit ◽  
Sling Surgery ◽  
The Mean

Purpose: To determine possible complications and efficacy of ptosis surgery in a series of chronic progressive external ophthalmoplegia (CPEO) patients with healthy tear film. Method: It is a prospective interventional study on 24 eyes from 12 patients with the diagnosis of CPEO and ptosis. Pre-operatively, tear breakup test (TBUT) and Schirmer test were performed to assess lacrimal function unit. Levator resection was performed for 16 eyes with levator function (LF) more than 4 mm, while eight eyes from four patients with poorer LF underwent frontalis silicone sling surgery. Main outcome measures included change in marginal-to-reflex distance (MRD1) and incidence of post-operative exposure keratopathy. Results: The mean age of the patients was 45 ± 15 years. The mean of TBUT and Schirmer test were 12 ± 1.98 s and 15 ± 2.76 mm, respectively. The mean follow-up period was 34 months. Four eyes encountered mild to moderate exposure keratopathy. All cases were managed medically, with no need for surgical revision. The mean pre-operative MRD1, LF, and chin-up angle were −0.54 ± 1.03 mm, 4.21 ± 1.41 mm, and 21.6 ± 6.01 degrees, respectively. The mean post-operative MRD1, LF, and chin-up angle were 2.42 ± 0.60, 4.46 ± 1.53 mm, and 3.3 ± 1.01 degrees, respectively. At 1-year follow-up visit, improvement in MRD1 and chin-up posture was statistically significant ( p-value < 0.05). Conclusion: Normal TBUT and Schirmer test results, prophylactic lubricating therapy, and close follow-up can be as important as Bell’s phenomenon and palpebral fissure height in predicting post-operative complications.

scholarly journals Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

2011 ◽  
Vol 38 (1) ◽  
pp. 119-123 ◽  
Author(s):  
Gerald Pfeffer ◽  
Sandra Sirrs ◽  
N. Kevin Wade ◽  
Michelle M. Mezei
Keyword(s):  
Late Onset ◽  
Retrospective Chart Review ◽  
Cardiac Conduction ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Mitochondrial Toxicity ◽  
Hepatitis C Infection ◽  
Multisystem Disorder ◽  
Pigmentary Retinopathy ◽  
Disease Spectrum

Abstract:Introduction:Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20.Methods:This descriptive study is a retrospective chart review of 40 patients with late-onset CPEO. Clinical features, laboratory and neurophysiology results were reviewed.Results:Multisystem dysfunction was very common in this series. Gastrointestinal dysfunction was more common than expected (60%) as was migraine headache (40%). Clinical characteristics on the KSS disease spectrum were uncommon in this series with only 2.5% having pigmentary retinopathy, 5% with cardiac conduction abnormality, and 22.5% having endocrinopathy (most often thyroid dysfunction rather than diabetes). Neurophysiology abnormalities included length-dependent axonal polyneuropathy in 44% (sometimes subclinical) and myopathic EMG changes in 26%. Exposure to sources of acquired mitochondrial toxicity including cigarette use and hepatitis C infection were more common than expected in this series.Discussion:Phenotype was different in this late-onset series compared with previous reports in CPEO patients. In this series of late-onset patients, multi-organ dysfunction was more common than previously reported in CPEO, and some classical mitochondrial manifestations, such as pigmentary retinopathy were rare. We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis of adult-onset CPEO.

scholarly journals Hydrocephalus presenting as idiopathic aqueductal stenosis with subsequent development of obstructive tumor: report of 2 cases demonstrating the importance of serial imaging

2017 ◽  
Vol 20 (4) ◽  
pp. 329-333 ◽  
Author(s):  
Jarod L. Roland ◽  
Richard L. Price ◽  
Ashwin A. Kamath ◽  
S. Hassan Akbari ◽  
Eric C. Leuthardt ◽  
...  
Keyword(s):  
Late Onset ◽  
Diagnostic Testing ◽  
Subsequent Development ◽  
Mass Effect ◽  
Aqueductal Stenosis ◽  
Pineal Region ◽  
Serial Imaging ◽  
Cerebrospinal Fluid Diversion ◽  
First Case

The authors describe 2 cases of triventricular hydrocephalus initially presenting as aqueductal stenosis that subsequently developed tumors of the pineal and tectal region. The first case resembled late-onset idiopathic aqueductal stenosis on serial imaging. Subsequent imaging revealed a new tumor in the pineal region causing mass effect on the midbrain. The second case presented in a more typical pattern of aqueductal stenosis during infancy. On delayed follow-up imaging, an enlarging tectal mass was discovered. In both cases hydrocephalus was successfully treated by cerebrospinal fluid diversion prior to tumor presentation. The differential diagnoses, diagnostic testing, and treatment course for these unusual cases are discussed. The importance of follow-up MRI in cases of idiopathic aqueductal stenosis is emphasized by these exemplar cases.

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