Long-term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia.

PURPOSE: To evaluate the long-term outcomes of the palpebral fissure transfer (PFT) technique without lower eyelid spacer in patients with chronic progressive external ophthalmoplegia (CPEO). DESIGN: Retrospective interventional case series. METHODS: Consecutive patients with CPEO with PFT surgery (2006-2017) and a minimum follow-up of 24 months were included. The PFT included simultaneous levator resection or frontalis sling (based on the levator function and Bell's phenomenon) and lower eyelid retractor recession without spacer. Primary outcome measures included the change in margin reflex distance 1 (MRD-1), MRD-2, and palpebral fissure height (PFH) in the course of time. Potential predictors of keratopathy were also explored. RESULTS: There were 32 patients (64 eyelids) with the mean age and follow-up of 34.1 years (range 15-56 years) and 37.9 months (range 24-72 months), respectively. Mean MRD-1 significantly increased from -0.9 mm to 3.4 mm in postoperative weeks 1 and 2 and 1.8 mm at the last follow-up. Mean MRD-2 significantly decreased from 5.6 mm to 3.7 mm in postoperative weeks 1 and 2 and 5 mm at the last follow-up. Eyes with frank lower eyelid retraction (MRD-2 >5 mm) gained more reduction in MRD-2 compared with those with no sclera show (-0.9 mm vs -0.3 mm, P < .001). Reoperation was performed in 9 eyelids for under- (n = 5) and overcorrection (n = 4). Persistent keratopathy was observed in 3 eyes (4.5%). CONCLUSION: Lower eyelid retractor recession without spacer yields significant protective corneal coverage at the critical early postoperative period when the risk of keratopathy is highest.

Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia.

BACKGROUND: To report midterm outcomes of strabismus strategy for management of diplopia in chronic progressive external ophthalmoplegia and specific surgical planning rationale. DESIGN: Retrospective interventional case series. RESULTS: Two patients, a 26-year-old male and a 36-year-old female, diagnosed with chronic progressive external ophthalmoplegia presented with blepharoptosis and intermittent diplopia. Ocular motility examination was significant for bilateral profound impairment of adduction with relative preservation of abduction, infraduction and elevation. Control of intermittent exotropia gradually worsened over 3 and 1.5 years of follow-up, respectively, in the presence of documented stability of the angle of exodeviation. Strabismus surgery involving modest amounts of bilateral medial rectus resection and lateral rectus recessions was undertaken. Surgical intervention was successful in controlling alignment in primary position and alleviating diplopia and asthenopia after 9 and 8 years of follow-up time, respectively, despite slow progression of ophthalmoplegia. CONCLUSION: Bilateral selective impairment of adduction and intermittent exotropia may be the presenting ocular motility disturbance in chronic progressive external ophthalmoplegia. Properly designed strabismus surgery may provide sustainable, in the midterm, control of alignment and symptomatic relief in selected patients with CPEO.

False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature.

METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis. Clinical examination showed EOM were grossly restricted in the right eye with a ptosis and normal in the left eye. Serum AchRA was positive on serum enzyme-linked immunosorbent assay (ELISA) however, following two months of oral pyridostigmine therapy there were no signs of clinical improvement. The initial serum sample sent was retested for AchRA by radio-immunoassay (RIA) which came back negative. Subsequently a muscle biopsy was requested which showed the presence of ragged red fibres. CONCLUSION: Unilateral ptosis and ophthalmoplegia is an unusual presentation for CPEO which characteristically produces bilateral symmetrical motility defects. In addition to Myasthenia Gravis elevated AchRA levels have been reported in other autoimmune conditions such as Primary biliary cirrhosis, Eaton Lambert syndrome and Graves's ophthalmopathy. We also highlight the superiority of RIA versus ELISA in the detection of AchRA and illustrate the diagnostic challenge of investigating and managing myogenic ptosis in this complex cohort of patients.

Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia.

The authors describe three examples of "pulled in two syndrome" (PITS) from a series of 13 patients undergoing strabismus surgery with underlying chronic progressive external ophthalmoplegia (CPEO) and illustrate techniques for recovery of the "pulled in two" extraocular muscle should the complication arise. In all cases, a rectus muscle snapped under minimal tension while held on a strabismus hook during strabismus surgery. Two patients suffered from CPEO as a result of genetic mitochondrial disease, whereas one resulted from presumed mitochondrial toxicity induced by HAART. In cases 1 and 3, the proximal medial rectus segment was retrieved and reattached. In case 2, the fragmented superior rectus muscle was too friable to be reattached. All three patients were satisfied with the outcome, having reduced their angles of misalignment postoperatively. All three had improved cosmesis, and the two who had complained of diplopia preoperatively found their diplopia to be eliminated or improved. With anticipation of muscle friability in patients with previous extraocular surgery or degenerative muscle changes such as CPEO, the likelihood of the complication arising may be reduced. Should it occur, the loss of a snapped rectus muscle may be avoided through careful manipulation of the globe. [J Pediatr Ophthalmol Strabismus. 2017;54:e83-e87.].

Factors affecting eyelid crease formation before and after silicone frontalis suspension for adult-onset myogenic ptosis.

PURPOSE: To evaluate factors that affect eyelid crease formation before and after frontalis suspension. DESIGN: Nonrandomized, comparative, interventional case series. METHODS: Sixty-three patients (125 eyes) with myogenic ptosis were included. Data collected included age, gender, previous surgeries, follow up, as well as pre- and postoperative margin reflex distance, palpebral fissure height, and levator function. Intraoperative maneuvers of incorporation of the levator aponeurosis into the skin closure, conservative fat excision, and conservative skin excision were recorded. Pre- and postoperative eyelid creases were graded by 2 masked, independent observers as "good," "fair," or "poor." RESULTS: The weighted κ coefficient between the graders was 0.68 (95% CI, 0.58-0.79) preoperatively and 0.70 (95% CI, 0.61-0.79) postoperatively. Evaluating preoperative eyelid crease grades, there was no significant difference with regard to age or gender (p = 0.83 or 0.69, respectively). Eyelid crease grade correlated with margin reflex distance (p = 0.0004) and palpebral fissure height (p = 0.002). There was no significant correlation of eyelid crease with levator function (p = 0.104). After frontalis sling, intraoperative maneuvers of incorporation of the levator aponeurosis into the incision, skin preservation, and fat preservation correlated with postoperative eyelid crease (p = 0.0004, 0.059, and 0.033, respectively). CONCLUSIONS: Preoperative levator function in patients with adult onset myogenic ptosis may be an inaccurate measure of true levator palpebrae strength. Reliance on levator function alone in decision making for surgical intervention in these patients may be misguided. The inclusion of the intraoperative maneuvers of incorporation of the levator aponeurosis into the skin incision and preservation of fat and skin results in a stronger eyelid crease after frontalis sling surgery.

Eyelid surgery in ocular myopathies.

OBJECTIVE: To retrospectively analyse surgical outcome and complications in patients with ocular myopathy undergoing ptosis correction and to introduce preoperative prophylactic lower lid elevation in this group. METHODS: The medical records of all ocular myopathy patients who had undergone oculoplastic surgery between June 1995 and May 2006 were obtained. Patients' demographics, surgical details and measurements, and complications were recorded. RESULTS: 29 patients were identified; 21 with chronic progressive external ophthalmoplegia (CPEO), 7 with myotonic dystrophy (MD) and 1 with oculopharyngeal muscular dystrophy (OPMD). Then, 61 procedures to adjust eyelid height were performed, comprising levator resection, brow suspension, anterior lamellar repositioning, lower lid elevation and upper lid lowering. Palpebral aperture was significantly increased in all patient groups, by procedure and diagnosis, more significantly following brow suspension compared with levator resection. The patients' feedback was very positive. Post-operative complications were few, included corneal exposure and ulceration, ptosis recurrence, arched brow, and sling infection, all of which were successfully treated. CONCLUSION: Our results demonstrate subjective and objective benefit following surgery in these patients, with a low complication rate. The use of pre-operative prophylactic lower lid elevation procedures is a promising modality.

Orbicularis oculi muscle biopsies for mitochondrial DNA analysis in suspected mitochondrial myopathy.

AIMS: We wished to demonstrate the feasibility of performing diagnostic mitochondrial DNA (mtDNA) analysis on biopsies of the orbicularis oculi muscle in patients with a chronic progressive external ophthalmoplegia (CPEO) phenotype and suspicion of an underlying mitochondrial disorder. METHOD: Case series of three patients who underwent ptosis surgery and had simultaneous biopsy of the orbicularis oculi muscle because of a suspicion of a mitochondrial disorder. Orbicularis muscle samples were divided into two pieces at the time of biopsy. The first was snap-frozen in liquid nitrogen, DNA was extracted and mtDNA deletion analysis was performed by two complementary methods (long PCR and Southern blot analysis). The second piece of muscle was assessed using routine histopathology, electron microscopy and immuno-histochemical analysis. RESULTS: Three patients with clinical features of CPEO, without any positive family history, underwent orbicularis muscle biopsies at time of eyelid ptosis surgery. All biopsies were adequate to conduct histopathological and immuno-histochemical analysis, which showed evidence of abnormal muscle structure and function. mtDNA was successfully extracted from all biopsies, and long PCR and Southern blot analysis confirmed diagnostic large single mtDNA deletions in all three cases. CONCLUSIONS: Orbicularis oculi muscle biopsies are useful in patients with CPEO to perform mtDNA analysis, thus avoiding a separate biopsy of skeletal muscle elsewhere.

Correção da blefaroptose na oftalmoplegia crônicaprogressiva / Blepharoptosis treatment for chronic progressive external ophtalmoplegia

Introdução: Ptose palpebral corresponde à abertura anormal da pálpebra superior em decorrênciada perda parcial ou total da função do músculo elevador (músculo levantador da pálpebrasuperior), ocasionada por doença adquirida ou congênita. Método: Neste trabalho, descreve-sea evolução e os resultados obtidos com a suspensão palpebral dinâmica com enxerto de fáscialata fixada ao tarso e músculo frontal. Resultados: No período entre 2000 a 2007, foram operadosseis pacientes portadores de blefaroptose bilateral consequente a oftalmoplegia crônicaprogressiva, os quais apresentaram resultado satisfatório com a técnica descrita.

Introduction: Palpebral ptosis is a superior eyelid abnormal opening due partial or totalelevator muscle function, caused by acquired or congenital pathology. Methods: In thispaper, we describe the evolution and results gotten with the dynamic palpebral suspensionwith fascial sling to tarsal and to frontal muscle. Results: Six patients with chronic progressiveexternal ophtalmoplegia blepharoptosis were operated between 2000 and 2008. Wedescribed satisfactory results with the technique.

Tratamiento quirúrgico de ptosis palpebral miogénica adquirida / Surgical treatment of acquired myogenic eyelid ptosis

Objetivo: Reportar el resultado de la cirugía de la aponeurosis del elevador en dos pacientes con ptosis palpebral miogénica adquirida y describir pautas quirúrgicas para su corrección.Métodos: Se revisaron las historias clínicas de dos pacientes con ptosis palpebral miogénica posterior a la corrección quirúrgica.Resultados: En dos pacientes con ptosis palpebral miogénica adquirida con escasa función del elevador se realizó cirugía de resección del elevador. Aparecieron complicaciones corneales en ambos casos.Conclusión: Los pacientes con ptosis palpebral miogénica tienen riesgo de complicaciones post-quirúrgicas por exposición corneal. La corrección quirúrgica debe ser conservadora y realizarse solamente cuando el eje visual está comprometido

Objective: To report the surgical outcome of aponeurosis surgery in patients with acquired myogenic eyelid ptosis and describe surgical guidelines for their correction. Methods: The clinical records of two patients with acquired myogenic eyelid ptosis after surgical correction were reviewed. Results: In two patients with acquired myogenic eyelid ptosis and barely good levator function, levator resection surgery was performed. Corneal complications appeared in both cases. Conclusion: Patients with acquired myogenic eyelid ptosis are at risk of post-operative surgical complications from corneal exposure. Surgical correction should be conservative and performed only when the visual axis is compromised

[Diagnostic and therapeutic problems in chronic progressive external ophthalmoplegia (CPEO)]. / Chronisch progressive externe Ophthalmoplegie (CPEO)--diagnostische und therapeutische Probleme.

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.

Management of myogenic ptosis.

OBJECTIVE: To review the genetics, clinical features, and management of patients affected by myogenic ptosis. DESIGN: Retrospective, noncomparative interventional case series. PARTICIPANTS: Twenty-eight patients with myogenic ptosis. METHODS: A review of all patients with myogenic ptosis between 1992 and 2000 was made in a tertiary oculoplastics practice. MAIN OUTCOME MEASURES: Ocular and systemic findings associated with myogenic ptosis were examined. Patients were diagnosed clinically, and ancillary tests (including genetic tests and muscle biopsy histologic findings) were reviewed. Surgical management principles and complications are discussed. RESULTS: Most of our ptosis patients had chronic progressive external ophthalmoplegia (43%), oculopharyngeal muscular dystrophy (OPMD; 18%), and myotonic dystrophy (18%). Fifty percent of myogenic ptosis patients in our series underwent frontalis suspensions. Twenty-one percent of patients who initially had operations at our institution had minor complications, most related to corneal exposure. The most common ocular finding other than ptosis and ophthalmoplegia was pigmentary retinopathy (25%). The most common systemic finding in our patients was dysphagia (43%). Genetic testing for OPMD was highly sensitive. Muscle biopsy results for mitochondrial myopathies were less accurate as adjunctive diagnostic tests. CONCLUSIONS: Myogenic ptosis should be considered in the differential diagnosis of any atypical ptosis presentation. To avoid complications, surgery should be performed only when the visual axis is obscured. We recommend the use of silicone slings in any patient with severe ptosis and less than 8 mm of levator function. Genetic testing of patients with myogenic ptosis is important to allow accurate diagnosis and to permit appropriate counseling on potentially life-threatening health issues.

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.

Transnasal endoscopic orbital decompression and Graves' ophtalmopathy.

AIM OF THE STUDY: To assess the validity and the limits of endoscopic endonasal orbital decompression for Graves' ophtalmopathy resistant to the medical theapy. MATERIAL AND PATIENTS: Between September 1994 and May 1998, 16 patients with Graves' ophtalmopathy resistant to the medical treatment underwent an orbital decompression transnasally. 27 orbits were decompressed. The surgery was bilateral in 11 patients. In the 5 remaining cases, the surgery was unilateral. It was carried out on the left side in 2 cases and on the right side in 3 cases. RESULTS: Preoperatively, the average visual acuity was 8/10. Postoperatively, the visual acuity was 9.5/10. The average preoperative exophtalmometry measurement was 25.04 mm and the average postoperative measurement was 21.83 mm. The average retrodisplacement was 3.17 mm (range: 2-8). Preoperatively, 3 patients had mild diplopia whereas 5 others had moderate to severe extraocular muscle dysfunction. Postoperatively, 6 patients had mild diplopia whereas 10 patients required squint surgery for moderate to severe extraocular muscle dysfunction. CONCLUSION: Endoscopic orbital decompression improve all the symptoms of Graves' ophtalmopathy but one: the extraocular muscle dysfunction. Its cardinal indication is the treatment of compressive optic neuropathy whereas this surgical approach provides an excellent control of the medial wall of the orbit and the orbital apex. But the average reduction of proptosis of 3.17 mm is not high enough to propose this approach alone for the treatment of disfiguring proptosis. In such cases, a 2 or 3 wall orbital decompression should be performed to get marked cosmetic and functional improvement. In all cases, the patient should be informed about the risk of postoperative diplopia.