Mild Ptosis Research Articles

Towards the perfect anastomosis - quantitative assessment of simulated anastomoses

period examined. 19 patients had an aggressive resection while 29 patients had a conservative resection. There were no differences in gender between the “aggressive” and “conservative” groups with a preponderance of females (58% vs 76%, p = 0.22). The mean age was lower in the “aggressive” group (16.46 years vs 29.12 years, p = 0.007). There were no significant differences in indications for sympathectomy between the groups which included Long QT syndrome (subtypes 1 to 3), CPVT and other. Procedural times were longer in the aggressive group as the mean operating time was longer using the 3-port technique in comparison to the single-port technique (43.95 mins vs 20.38 mins, p <0.0001). Only 1 patient required insertion of chest drain post-operatively for a pneumothorax and there was no difference in hospital stay (1.32 days vs 1.36 days, p = 0.81). There was no significant difference in the shortening of the QT interval between the 2 groups (66.7% vs 56%, p = 0.55). There were no differences between the 2 groups for later requirement for implantable defibrillators, further arrhythmias or death (31.25% vs 26.92%, p = 1.0). Compensatory hyperhidrosis was not significantly different between the groups (6.25% vs 15.38%, p = 0.63). Partial Horner’s syndrome occurred only in the “aggressive” group in 5 patients (31.25% vs 0%, p = 0.005); in only 2 patients did a mild left ptosis persist for longer than 6 months. Discussion: Aggressive approaches that sacrifice the lower third to half of the stellate ganglion run the risk of resulting in a partialHorner’s syndrome,without conferring additional electrocardiographic or clinical benefit. The majority of the stellate ganglion therefore should be spared, and only the very bottom of it should be sacrificed. A single port access technique is an efficient access method for such procedures.

G.P.140: A novel missense mutation in the AGRN gene causing congenital myasthenic syndrome mimicking neck myopathy

Congenital myasthenic syndromes (CMS) are inherited diseases of the neuromuscular junction (NMJ), causing muscle weakness worsened by physical exertion. Mutations in agrin were shown to cause CMS and affect synapse function. Here we describe a 17-month-old Turkish infant male from a consanguineous family who presented with neck weakness and mild hypotonia. He was able to stand and walk unsupported a few steps by 1-year of age. Over the following year, he was followed with a provisional clinical diagnosis of congenital myopathy or neck myopathy. During his second visit at 36-months of age, he presented with ptosis and restrictive eye movements deteriorating during the day. Electromyographic study revealed an NMJ problem, such that 10–30% amplitude decline was observed at 3.5Hz stimulation whereas no decline was observed at 20Hz stimulation. Screens for acetylcholine receptor antibodies and MuSK antibodies were negative. His symptoms improved after pyridostigmine treatment, but he still develops mild ptosis during the day. His initial presentation with isolated neck weakness sparing the eyes was not consistent with typical presentation of CMS. Thus, we listed LMNA or SEPN1-related myopathies in the differential diagnosis. We performed whole exome sequencing (WES) on the patient's DNA. On bioinformatic analysis, he was identified to carry a homozygous point mutation c.5023G>A in the AGRN gene resulting in a missense variant (p.Gly1675Ser).This mutation was not present in current databases.Further studies are proceeding to reveal the in vitro effects of this mutation on functional assays and to ensure the genotype-phenotype correlation between this novel mutation and unusual disease presentation.With this report we emphasize the importance of early diagnosis for initiation of treatment of CMS in patients with provisional clinical diagnosis of neck myopathy.This study also emphasizes the significance of WES as a diagnostic tool to expedite the diagnosis of NMDs with unclear presentations.

Dermoid Cyst Excision under Müller Muscle in a Patient with Blepharoptosis.

Dermoid Cyst Excision under Müller Muscle in a Patient with Blepharoptosis.

Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance

A 39-year-old woman presented with progressive leg weakness and spasticity. She had been born at a low birth weight and had spent 8 days in a special care baby unit....

Adjunctive Techniques to Traditional Advancement Procedures for Treating Severe Blepharoptosis

To create a more physiologic eyelid opening in patients with severe blepharoptosis, the authors used lamina propria mucosa of conjunctiva, which continues to the check ligament of the superior fornix, in addition to levator aponeurosis and Müller's muscle as a composite flap. In patients with epicanthal folds with associated telecanthus, the authors also performed epicanthoplasty with medial canthal tendon shortening. Fifty blepharoptosis patients (85 eyelids) with a degree of ptosis of greater than 4 mm underwent the advancement technique using the levator aponeurosis-Müller's muscle-lamina propria mucosa of conjunctiva as a composite flap. Twenty-one (42 percent) of those patients also underwent split V-W epicanthoplasty and plication of the medial canthal tendon for epicanthal folds with associated telecanthus. Degree of ptosis and levator function were measured preoperatively and postoperatively. Complete or near-complete correction of ptosis (degree of ptosis, <1 mm) was achieved in 54 eyelids (63.5 percent) and mild residual ptosis (degree of ptosis, 1 to 2 mm) was observed in 22 eyelids (25.9 percent) in postoperative follow-up after 6 months. The most common complication was reoperation, which was done in 15 eyelids (17.6 percent) because of incomplete correction. The advancement technique using the levator aponeurosis- Müller's muscle-lamina propria mucosa of conjunctiva composite was effective in the treatment of severe blepharoptosis with levator function of 2 to 7 mm. The technique produced elevating motion of the physiologic eyelid in a superior-posterior direction. There were no serious complications, such as long-term lagophthalmos or lid lag. Therapeutic, IV.

Ocular myasthenia with thyroid associated ophthalmopathy in subclinical Graves′ disease: Diagnostic challenge and treatment outcomes

Ocular myasthenia in Graves' disease is very rare with less than 10 cases reported. We present a clinically euthyroid lady with features of thyroid-associated ophthalmopathy (TAO) who had mild ptosis, external ophthalmoplegia, firm goiter and subclinical hyperthyroidism. Hertel exophthalmometry confirmed exophthalmos. CT orbit revealed thickening of bilateral inferior, medial and superior recti. Anti-thyroid peroxidase antibody was positive (154 IU/ml; normal <40 IU/ml). Repetitive nerve stimulation test of bilateral nasalis muscle showed decremental response, more prominent on the left side. Electrodiagnostic screening for concomitant myopathy or neuropathy was unremarkable. A subsequent positive neostigmine test and a positive anti-acetylcholine receptor antibody (1.46 nmol/L; normal <0.5 nmol/L) lead to the diagnosis of ocular myasthenia with TAO and subclinical Graves' disease. Ptosis and ophthalmoplegia improved with pyridostigmine and carbimazole. She was doing well even after 2 years of follow-up. Any patient of TAO with ptosis and ophthalmoplegia should be evaluated for ocular myasthenia. This case intends to highlight that TAO and ocular myasthenia can coexist, is a diagnostic challenge, with important consequences, as lack of treatment of Graves' disease can aggravate myasthenia.

Severe Asthma Associated with Myasthenia Gravis

Severe asthma constitutes a subgroup of approximately 10% of all asthma cases. Approximately one-half of these individuals have a refractory form of the disease in which atopy and T-helper cell 2-skewed immunological response may not be as closely linked to the disease as in other phenotypes of asthma. This suggests that not all asthma is explained by a T-helper cell 2-skewed immunological response, and that other immunological mechanisms may be important in this category of nonatopic asthma. The authors present a case involving a 55-year-old Caucasian man with nonatopic, adult-onset asthma, nonsteroidal anti-inflammatory drug sensitivity and idiopathic urticaria. This individual presented two years following his initial asthma diagnosis with diplopia and mild ptosis, and was subsequently diagnosed with seropositive myasthenia gravis.

Mild Ptosis Correction with the Stitch Method During Incisional Double Fold Formation

BackgroundNumerous methods exist for simultaneous correction of mild blepharoptosis during double eyelid surgery. These methods are generally categorized into either incisional (open) or non-incisional (suture) methods. The incisional method is commonly used for the creation of the double eyelid crease in patients with excessive or thick skin. However, concurrent open ptosis correction is often marred by the lengthy period of intraoperative adjustment, causing more swelling, a longer recovery time, and an increased risk of postoperative complications.MethodsThe authors have devised a new, minimally invasive technique to alleviate mild ptosis during incisional double eyelid surgery. The anterior lamella is approached through the incisional technique for the creation of a double eyelid while the posterior lamella, including Muller's and levator muscles, is approached with the suture method for Muller's plication and ptosis correction.ResultsThe procedure described was utilized in 28 patients from June 2012 to August 2012. Postoperative asymmetry was noted in one patient who had severe preoperative conjunctival scarring. Otherwise, ptosis was corrected as planned in the rest of the cases and all of the patients were satisfied with their postoperative appearance and experienced no complications.ConclusionsOur hybrid technique combines the benefits of both the incisional and suture methods, allowing for a predictable and easily reproducible correction of blepharoptosis with an aesthetically pleasing double eyelid.

Acquired Horner′s syndrome in an infant: A case report

Horner's syndrome has varied etiology. We report a case of acquired Horner's syndrome in an infant. A 3-month-old female child was referred for drooping of right eye upper lid on the second postoperative day following neck surgery. On examination, she had mild ptosis of right eye; with enophthalmos and miosis. A clinical diagnosis of Horner's syndrome was made. One percent phenylephrine test was done which dilated right pupil, suggestive of a postganglionic lesion. The sample was biopsied and revealed an infected lymphatic cyst. Horner's syndrome is a collection of signs due to interruption of sympathetic innervation to eye and face, characterized by miosis, mild ptosis, enophthalmos, and anhydrosis. The sympathetic pathway is a three neuron pathway. The present lesion is in the third order fibers which form plexus around the internal carotid artery. Dissection along the carotid can be an important cause for interruption of the sympathetic pathway.

Tear function and ocular surface after muller muscle- conjunctival resection

Muller muscle-conjunctival resection (MCR) is a surgical technique to correct mild and moderate ptosis. In this study, tear function tests and ocular surface are evaluated in patients who underwent unilateral surgery. Sixteen patients with normal preoperative tear function who underwent unilateral MCR were evaluated prospectively. The fellow eyes of the patients were taken as the control group. A dry eye assessment questionnaire, Schirmer testing, tear film break-up time, fluorescein stain, Rose-Bengal stain, and conjunctival impression cytology were used to assess the tear film functions and ocular surface changes in the operated and non-operated eyes. There was no statistically significant difference in the tear function tests and goblet cell densities between the operated and non-operated eyes. The results indicate that an MCR procedure has no apparent effect on tear function tests and goblet cell density in patients with normal preoperative tear function.

Neurotoxin envenomation mimicking brain death in a child: A case report and review of literature.

The spectrum of presentation of a victim of neurotoxic snake bite can range from mild ptosis to complete paralysis and ophthalmoplegia. We report a case of snake bite in a 10-year-old child who was comatosed with bilateral fixed dilated pupils and absent doll's eye movement that was interpreted as brain death. Physicians need to be aware of the likelihood of snakebite presenting as locked in syndrome.

Efficacy of botulinum toxin in benign essential blepharospasm: Desirable &amp; undesirable effects

To study the efficacy, desirable and undesirable effects of locally injectable preparation of botulinum toxin in patients suffering from Benign Essential Blepharospasm(BEB). It was a prospective study carried out from October 2006 till November 2012 at a private set up, "Dr Shakaib's Eye Clinic", inIslamabad. Follow up of Seventeen patients of BEB has been done over six years period after injecting botulinum toxin. The patients had been explained about the study and informed consent was taken. After taking all the standard precautions for botulinum toxin injection, 5 to 7 (mean 6) sites for injecting 1.5 to 2.0 IU of the toxin were selected depending upon the severity and duration of the problem. These patients were requested to attend the clinic regularly, initially after three days and then weekly for two weeks, followed by every month for three months and then at three monthly intervals for up to six years. The useful effects of the injection appeared in all the patients within 48 hours. There were minor side effects like irritation in the eyes and heaviness in the brow region. One (5.88 %) patient developed mild ptosis, which subsided over two weeks. Four (23.52 %) patients felt almost cured after three to four repetitions of injections. The useful effect of the injection lasted for about three months in all the patients. Botulinum toxin is a useful remedy for Benign Essential Blepharospasm (BEB), although the effects are short term and repeated applications are required which is quite costly for the patient.

Upper eyelid blepharoplasty combined with levator aponeurosis plication in general anesthesia for mild congenital ptosis

Upper eyelid blepharoplasty combined with levator aponeurosis plication in general anesthesia for mild congenital ptosis

P.12.4 Great phenotypic variability in two siblings affected by congenital myasthenic syndrome associated with mutations in MUSK

Congenital myasthenic syndromes (CMS) are rare genetic diseases, in which neuromuscular transmission is impaired. To date 17 CMS disease genes have been identified with mutations in MUSK reported in only 8 patients. Here, we describe clinical, neurophysiological, and molecular features of two Italian siblings who carrying compound heterozygous mutations in MUSK. The first sibling is a 27-year-old woman. As a neonate, she had laryngeal stridor and respiratory failure requiring mechanical ventilation and tube feedings. Her subsequent clinical course was characterized by bilateral eyelid ptosis, paresis of lateral and vertical gaze, mild tongue weakness and atrophy, and severe weakness of the facial, neck flexor, and proximal limb muscles. Treatment with 3,4-diaminopyridine was of mild benefit, while pyridostigmine worsened her symptoms. The second sibling is a 29-year-old man. He had bilateral eyelid ptosis since birth but later only mild fatigable weakness of the proximal leg muscles which did not limit his daily activities and participation in sports. Examination at age of 28 years only revealed mild tongue weakness and atrophy, mild bilateral eyelid ptosis, limitation of lateral and vertical gaze, and mild facial and proximal leg muscle weakness. Mutation analysis of MUSK revealed 2 mutations: a previously identified c.2368G > A (p.Val790Met) mutation, reported by Chevassier et al., and a novel c.467delA (p.Lys156Argfsstop20) mutation. Thus, the phenotypic expression of the identical MUSK mutations was markedly different in the two siblings with the sister being more severely affected. To our knowledge a mild phenotype in one of two siblings harbouring the same mutations has never been documented in MuSK–MG.

Sympathetic neuropathy and dysphagia following doxycycline sclerotherapy

This case report demonstrates neurologic sequela following treatment with doxycycline sclerotherapy. A six-week-old child presented with respiratory distress from a macrocystic lymphatic malformation, extending from the skull base to the anterior mediastinum. Following doxycycline sclerotherapy, the airway symptoms resolved; however, the child developed silent aspiration and Horner's syndrome. Two months following treatment the patient resumed oral diet and at one year post-intervention there has been no recurrence of symptoms, with only mild ptosis remaining.While neuropathies following doxycycline sclerotherapy have been described, aspiration has never been documented. This case demonstrates a single patient's clinical course and resolution of their neuropathies.

Freiburg Neuropathology Case Conference: A Contrast-Enhancing Orbital, Intra-Conal Lesion

a 61-year-old woman developed progressive exophthalmos of the left ocular bulb over a period of several weeks. she complained of conjunctival irritation, increased lacrimation, and associated gait disturbance. Ophthalmologic examination showed no visual field deficit and a visus of 0.8 versus 1.0 on her right eye. These findings remained stable at follow-up 4 weeks later. at clinical examination no neurological deficit was observed. Magnetic resonance imaging (MRI) revealed a left-sided orbital, intra-conal lesion. Lateral orbital decompression (according to Kronlein) was performed with resection of the lateral orbital wall and the orbital roof. Opening the periorbita, the capsulated tumour was situated in the intra-conal fat tissue. The tumour capsule was mostly of a white colour with some vascular injections and also adherent veins. after coagulation and opening of the capsule, the tumour was of a tough and adherent consistence, appearing white-greyish. intra-capsular tumour reduction without manipulation of the optic nerve could be achieved. The post-operative course was uneventful without visual impairment. Mild ptosis and diplopia resolved completely within several days. Imaging

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a PAX6 mutation. Case-series. Fourteen family members - 8 affected, 6 unaffected controls. All participants underwent ophthalmological assessment, including best-corrected visual acuity, slit-lamp-examination, pachymetry, endothelial cell-count, tonometry and dilated fundoscopy. All subjects underwent anthropometry and assessment of glycaemic status. Genetic analysis of the PAX6 gene was performed. Presence of ptosis, corneal, iris and lenticular changes, gycaemic and PAX6 status. All eight affected subjects had ptosis with reduced levator function, anterior polar cataracts, and corneal changes of variable severity - two patients had undergone penetrating keratoplasties, with graft histology revealing conjunctival cells on the cornea and severe fibroinflammatory change. Five patients had iris hypoplasia. One patient had aphakic glaucoma and another had hypoplastic optic discs. Four of the six controls had no ocular features of this syndrome, and two had isolated mild ptosis. There was no difference in height or body mass index between cases and family controls (p > 0.05), but Haemoglobin A1c was greater in the cases (median [interquartile range] 5.6(0.8) vs 5.1(0.3), p = 0.028). Genetic analysis confirmed a pathogenic PAX6 mutation in exon 12 (c1439delC) in all eight patients, but none of the controls. This is the first report of this particular constellation of ocular signs occurring in association with a PAX6 mutation. There was no association with anthropometric features, but affected subjects had worse glycaemia than controls, which may be related to the known role of PAX6 in development of the pancreas.

Role of Oral Corticosteroids in Orbital Cellulitis

To evaluate the role of oral corticosteroids as an anti-inflammatory adjunct in the treatment of orbital cellulitis. Prospective, comparative, single-masked, interventional clinical study. setting: Tertiary eye care center (All India Institute of Medical Sciences). study population: Patients with acute onset (within 14days) of orbital cellulitis with or without abscess. intervention: Patients were randomized into 2 groups in the ratio of 1:2. Both groups received initial intravenous antibiotics. In Group 2, oral steroids were added after an initial response to intravenous antibiotics. main outcome measures: Resolution of signs and symptoms, duration of intravenous antibiotics, length of hospital stay, and sequelae of disease (ptosis, proptosis, and movement restriction) were evaluated and compared between the 2 groups. A total of 21 patients (age range, 11-59 years) with orbital cellulitis were studied. There were 7patients in Group 1, who received standard intravenous antibiotics, and 14 in Group 2, who received adjuvant steroids. Patients in Group 2 showed an earlier resolution of inflammation in terms of periorbital edema (P= .002 atday 7), conjunctival chemosis (P < .001 at day 10), and pain (P= .012 at day 7). They also attained vision of 0.02 on logMAR earlier than Group 1 patients. Decrease in proptosis and improvement in extraocular movements were also significantly better with the use of steroids (P= .027 at day 10, P= .003 at day 14, respectively). While a significant number of patients in Group 1 had mild residual ptosis, proptosis, and movement restriction at 12weeks, none of the patients treated with steroids had any residual changes (P= .023, P = .001, and P= .001, respectively). The durations of intravenous antibiotics and hospital stay were significantly less in Group 2. Use of oral steroids as an adjunct to intravenous antibiotic therapy for orbital cellulitis may hasten resolution of inflammation with a low risk of exacerbating infection.

Pediatric Ptosis as a Sign of Treatable Autonomic Dysfunction

To report the ophthalmic findings in young patients with dopamine β-hydroxylase deficiency and to assess them in the context of other reports in an attempt to discern if ophthalmic criteria may assist in early detection of this debilitating, yet treatable, disorder. Prospective, observational case series. An ophthalmic examination, including measuring intraocular and systemic blood pressures while supine, sitting, and standing, and eyelid function and pupillary function testing, was completed on 3 young patients with recently documented dopamine β-hydroxylase deficiency at a single institution. Mean arterial blood pressures were 90.1 ± 18.5 mm Hg supine, 79.1 ± 25.7 mm Hg sitting, and 45.8 ± 11.6 mm Hg standing (P = .021). Mean intraocular pressures in these patients were 15.8 ± 1.0 mm Hg supine, 15.0 ± 3.6 mm Hg sitting, and 7.7 ± 2.3 mm Hg standing (P = .03). Mean palpebral fissure, levator function, and margin reflex distance were 8.2 ± 1.0 mm, 16.0 ± 0 mm, and 2.8 ± 0.6 mm, respectively. Measurable miosis was present in only 1 patient, and pupillary supersensitivity to 2.5% phenylephrine was not observed. The ophthalmologic findings of the patients in this case series documented mild ptosis and striking orthostatic reductions in intraocular pressure and mean arterial blood pressure, as might be expected with a lack of intrinsic sympathetic function. Orthostatic intraocular pressure and mean arterial blood pressure may be a helpful early screening tool for autonomic dysfunction in children undergoing a ptosis evaluation.

Aperfeiçoando a mensuração do volume mamário na reconstrução imediata com expansores permanentes

INTRODUÇÃO: A determinação precisa do volume mamário pode melhorar o resultado dos procedimentos de reconstrução. O objetivo deste estudo é correlacionar a mensuração pré-operatória do volume mamário utilizando o método de conchas plásticas e a aplicação intraoperatória do princípio de Arquimedes para a avaliação volumétrica das mamas, em pacientes submetidas a reconstrução mamária imediata utilizando expansores permanentes, portadoras de mamas de pequeno volume e grau ptótico leve. MÉTODO: Dez pacientes foram incluídas em um estudo retrospectivo não-randomizado. O volume da mama foi mensurado, no pré-operatório, com conchas plásticas com volumes predeterminados e, no período intraoperatório, com o método de Arquimedes. Expansor apropriado permanente foi selecionado e inserido de maneira retromuscular. A equipe classificou a simetria da mama como pobre, boa ou muito boa. RESULTADOS: As diferenças entre as medidas pré e intraoperatórias foram estatisticamente significantes (P < 0,01, teste t de Student). Os valores pré-operatórios foram subestimados em 70% dos casos e foram 15% menores que os valores intraoperatórios. CONCLUSÕES: A avaliação do volume da mama em procedimentos de reconstrução imediata utilizando expansores permanentes pode ser aperfeiçoada pela combinação de diferentes técnicas de mensuração pré e intraoperatórias, levando a resultados mais previsíveis. O método de conchas plásticas de volume preestabelecido tende a subestimar o volume ressecado da mama quando comparado aos valores obtidos com método de mensuração intraoperatória utilizando o princípio de Arquimedes.