Surgical Management of Overgrowth Syndrome With Bilateral Vision-Threatening Ptosis.

We describe the first case reported in ophthalmological literature of the surgical management of a 17-month-old boy with bilateral vision-threatening ptosis, tarsomegaly, ectropion, and euryblepharon secondary to suspected overgrowth syndrome. We elaborate on the major challenges associated with surgical management including the natural and asymmetric growth of oversized tissue, the high likelihood of scarring and formation of disorganized tissue, and risks of frequent intubation in these patients who may have lesions that compromise critical structures such as the airway. Ultimately, surgical intervention is encouraged primarily if vision or ocular health is threatened and secondarily to achieve good cosmesis.

Accuracy of Repetitive Ocular Vestibular-Evoked Myogenic Potentials to Diagnose Myasthenia Gravis in Patients With Ptosis or Diplopia.

BACKGROUND AND OBJECTIVES: We developed repetitive ocular vestibular-evoked myogenic potentials (roVEMP) as an electrophysiologic test that allows us to elicit the characteristic decrement of extraocular muscles in patients with ocular myasthenia gravis (OMG). Case-control studies demonstrated that roVEMP reliably differentiates patients with OMG from healthy controls. We now aimed to evaluate the diagnostic accuracy of roVEMP for OMG diagnosis in patients with ptosis and/or diplopia. METHODS: In this blinded prospective diagnostic accuracy trial, we compared roVEMP in 89 consecutive patients presenting with ptosis and/or diplopia suspicious of OMG with a multimodal diagnostic approach, including clinical examination, antibodies, edrophonium testing, repetitive nerve stimulation of accessory and facial nerves, and single-fiber EMG (SFEMG). We calculated the roVEMP decrement as the ratio between the mean of the first 2 responses compared with the mean of the sixth-ninth responses in the train and used cutoff of >9% (unilateral decrement) in a 30 Hz stimulation paradigm. RESULTS: Following a complete diagnostic work-up, 39 patients (44%) were diagnosed with ocular MG, while 50 patients (56%) had various other neuro-ophthalmologic conditions, but not MG (non-MG). roVEMP yielded 88.2% sensitivity, 30.2% specificity, 50% positive predictive value (PPV), and 76.5% negative predictive value (NPV). For comparison, SFEMG resulted in 75% sensitivity, 56% specificity, 55.1% PPV, and 75.7% NPV. All other diagnostic tests (except for the ice pack test) also yielded significantly higher positive results in patients with MG compared with non-MG. DISCUSSION: The study revealed a high sensitivity of 88.2% for roVEMP in OMG, but specificity and PPV were too low to allow for the OMG diagnosis as a single test. Thus, differentiating ocular MG from other neuro-ophthalmologic conditions remains challenging, and the highest diagnostic accuracy is still obtained by a multimodal approach. In this study, roVEMP can complement the diagnostic armamentarium for the diagnosis of MG. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in patients with diplopia and ptosis, roVEMP alone does not accurately distinguish MG from non-MG disorders. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov: NCT03049956.

Juvenile ocular myasthenia gravis: a report of two cases.

We report 2 cases of pediatric ocular myasthenia gravis. The first case was a 7-year-old girl who presented with bilateral ophthalmoplegia and ptosis that correlated with the onset of upper respiratory symptoms. Neuroimaging and acetylcholine receptor antibody testing were unremarkable. The ice pack test was positive. Symptoms greatly improved with pyridostigmine, with full resolution of ophthalmoplegia achieved by 8-month follow-up. The second case was a 4-year-old girl who presented emergently with ptosis and bilateral ophthalmoplegia. Acetylcholine receptor antibodies testing was positive. The patient was started on pyridostigmine and intravenous immunoglobulin and is scheduled to follow-up with pediatric ophthalmology in the outpatient setting.

Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.

Neuronal intranuclear inclusion disease (NIID) exhibits diverse clinical manifestations. Our patient was a 64-year-old woman with bilateral ptosis as the chief complaint. She had bilateral miosis, and the pupil was only slightly dilated 60 min after 1% phenylephrine administration, suggesting autonomic dysfunction secondary to preganglionic sympathetic impairment. A head-up tilt test revealed asymptomatic orthostatic hypotension. She was diagnosed with NIID based on a skin biopsy and genetic testing. This study suggests that blepharoptosis is an early manifestation of NIID. Furthermore, patients with suspected NIID should be examined carefully for autonomic dysfunction.

Ptosis secondary to orbital metastasis undetected by magnetic resonance imaging: A case report.

We report a patient with isolated ptosis secondary to orbital metastasis but no evidence of a neoplastic process on magnetic resonance imaging (MRI). A 69-year-old male was referred to our hospital with ptosis of the right upper eyelid and secondary frontalis muscle overaction on the left side for six months. The palpebral fissure was 3mm on the right and 16mm on the left, and levator function was 6mm and 19mm respectively. Three years previously, he had undergone surgical resection of the left lower lobe of the lung due to a T1 N0 M0 adenocarcinoma, and no recurrence had since been observed. An MRI was performed to rule out ptosis secondary to metastasis. Thyroid dysfunction and myasthenia were also ruled out. The ptosis was attributed to an isolated microvascular third nerve palsy. A standard external levator advancement was performed. Six months after the surgery, the patient presented with intense pain, minimal ptosis, edema and diplopia. A new MRI revealed an orbital metastasis measuring 2.4×1.0×1.6cm in the superior orbit, exerting mass effect on the superior rectus and the levator palpebrae superioris muscle. A positron emission tomography scan revealed a recurrence of the lung cancer with multiple bony metastases. The patient underwent chemotherapy consisting of the taxol-carboplatin protocol. Our report highlights the importance of a high index of suspicion of a neoplastic etiology in patients with mild symptoms and a history of cancer even if imaging does not initially reveal a mass or infiltration.

An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome.

INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease due to a severely impaired central control of breathing and dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. We report a unique case of CCHS in association with monocular elevation deficit (MED) in a boy diagnosed with CCHS at birth. CASE DESCRIPTION: We report a case of a boy with a confirmed diagnosis of CCHS (complete sequencing of the paired-like homeobox 2b (PHOX2B) gene) after presenting little respiratory effort and cyanosis at birth. The ophthalmological examination shows an impaired elevation of the left eye, both in adduction and abduction, associated with mild and variable left ptosis. His mother has observed that the left eyelid elevates when the child feeds. A deviation in the primary gaze position or a chin-up position are not present. The funduscopic examination is normal. Given that deviation is limited to upgaze, the ptosis is mild and the patient's age, observation is decided. CONCLUSIONS: Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. To the best of our knowledge, this is the first report of MED in association with CCHS. Further studies are needed to determine if an association between MED and CCHS exists or is just a casual finding in this case.

How to assess blepharoptosis via telemedicine: method and its reliability.

PURPOSE: To report the method to assess belpahroptosis and its reliability of adult ptosis using video consultation. METHODS: This is a retrospective, comparative, case series. The surgical waiting list for ptosis surgery between 8/2020 and 1/2021 was checked and only cases listed for surgery via video consultation assessment, without any previous face-to-face consultation, were included. The following data were collected for patients who underwent video consultation before surgery: Demographic data, level of experience of clinician, levator function, Cogan's twitch sign, fatigability test, eye motility, presence of lagophthalmos, clinical history to rule out Myasthenia Gravis, other myopathies or Horner syndrome, whether the surgery was performed or canceled, reason for cancellation, date of surgery, type of procedure and surgeon experience. RESULTS: A total of 176 patients underwent ptosis surgery. From those, 45 patients (25.6%) had only video assessment prior to surgery, 36 patients (80%) eventually underwent ptosis surgery. Surgery was canceled in 20% of the cases: in 2 cases (4.44%) due to misdiagnosis of ptosis during video consultation, confirmed on the day of surgery during pre-surgical face-to-face assessment; the other 7 cases (15.55%) belpharoptosis was confirmed on face-to-face examination but the surgery was canceled due to other reasons. The diagnosis of ptosis assessment via video consultation was corrected in 43 cases (95%) (p_value = 0.156, chi_ square). The accuracy of ptosis diagnosis was 13 out of 15 (86.7%) by fellow assessments and 30 out of 30 (100%) by consultant assessments (p_value = 0.041, chi_ square). In most of the cases ptosis assessment in video consultation included: rough judgment of levator function, eye motility and checking signs of lagophthalmos. CONCLUSIONS: Video consultation is an efficient and reliable way to assess patients with ptosis, with 95% of reliability. Although a thorough ptosis assessment is advised, there was no difference between the accuracy of diagnosis on those who did not have the full suggested assessment.

Older Woman With Proptosis, Ptosis, and Blurred Vision.

A woman in her early 70s with a history of coronary artery disease, hypertension, and colon polyps presented to oculoplastic surgery with 1 week of progressive right-sided proptosis, headache, right eyelid ptosis, and blurry vision. Outside magnetic resonance imaging demonstrated an infiltrative mass involving right greater than left orbital apices, the right optic nerve, and right extraocular muscles. What would you do next?

The Long-Term Effect on Dry Eye of Posterior Approach Ptosis Surgery Vs. Upper Eyelid Blepharoplasty.

PURPOSE: To examine the long-term effect of combined blepharoplasty and Müller muscle-conjunctival resection (MMCR) compared to an upper blepharoplasty procedure on dry eye syndrome. METHODS: This is a Prospective comparative case series. Two groups of patients participated in this study: the blepharoplasty group included adult patients that underwent blepharoplasty at least 3 years earlier and the ptosis group consisting of adult patients that underwent MMCR with blepharoplasty at least 3 years earlier. The parameters that were compared for all patients before the procedure, on postoperative day 90, and at the long-term follow-up were: Schirmer-test 2, tear break-up time (TBUT), fluorescein staining, and lissamine green (LG) staining. RESULTS: The participants included 25 post-MMCR patients with a mean follow-up of 4.94 ± 0.64 years and 15 post-blepharoplasty patients with a mean follow-up of 4.22 ± 0.32 years. There was a significant increase in the postoperative LG and fluorescein staining scores compared to the preoperative scores in the ptosis group (p < .01 and p < .01, respectively) as well as a decrease in postoperative TBUT compared to the preoperative values (p = .044). Those parameters were not significant in the blepharoplasty group. CONCLUSIONS: Patients who underwent MMCR, but not those following upper blepharoplasty, showed signs of dry eye compared to the preoperative status after long-term follow-up. Dry eye signs should be examined before MMCR surgery, and patients should be aware of the high risk of developing dry eye and the need for long-term treatment. Surgeons should carefully consider performing MMCR for patients with severe dry eye.

Marcus-Gunn jaw winking syndrome: case series study and management algorithm.

PURPOSE: To identify a rationale for treatment of patients with Marcus Gunn jaw winking syndrome (MGJWS). METHODS: Retrospective review of 38 consecutive patients with MGJWS referred to a single tertiary institution. Clinical data included visual acuity, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs, and management undertaken. Thirty-two patients were operated on with customized surgery by a senior surgeon (FQL). RESULTS: Cases with no ptosis or mild ptosis were managed conservatively. Levator advancement (LA) was successful in case of moderate ptosis and negligible synkynesis but resulted in a more evident synkinesis. Levator resection (LR) in patients with severe ptosis was associated with high rate of ptosis recurrence. Ptosis was adequately corrected in all patients submitted to uni- or bilateral levator excision (LE) and bilateral frontalis suspension (FS) or unilateral frontalis flap (FF). Jaw winking resolved in all patients submitted to LE but recurred in three cases at a later stage. Strabismus surgery was performed simultaneously in case of associated esotropia or hypotropia. CONCLUSIONS: Moderate ptosis can be corrected with LA, but success is not related to levator function and synkinesis becomes more evident postoperatively. In severe ptosis, LR showed unpredictable results. In case of severe ptosis and severe synkinesis, uni- or bilateral LE and bilateral FS are recommended; unilateral FF is an alternative in patients who refuse bilateral treatment, as the cosmetic outcome is usually better than after unilateral FS.

Orbital Fibrotic Band as Cause of Monocular Elevation Deficiency.

Monocular elevation deficiency is a congenital, unilateral inability of elevation. It is classified as innervational, restrictive, or combine types. Here, we report a rare case of monocular elevation deficiency who had 60 PD left hypotropia and left ptosis with limited elevation (-5) both on abduction and adduction. Orbital MRI revealed a hypointense fibrotic band between the superior oblique and superior rectus muscles extending obliquely in the superonasal direction between the sclera and orbital roof. She was successfully treated after severing the fibrotic band between the sclera and bony orbit.

Subclinical Upper Eyelid Ptosis in Asian Patients: The Role of Levator Advancement in Optimizing Outcomes in "Cosmetic" Upper Blepharoplasty.

BACKGROUND: Subclinical ptosis is prevalent in Asian patients presenting for aesthetic upper blepharoplasty. To achieve predictable and satisfactory results in these patients, addressing the ptosis component is critical. In this paper, we present a precision levator advancement technique that enabled us to predictably incorporate the levator advancement into our upper blepharoplasty to deliver more predictable results in these patients. MATERIALS AND METHODS: Asian patients with normal or near normal margin to reflex distance 1 (MRD 1 of ≥ 3.5 mm) and symptoms and signs of straining of the frontalis with eyelid opening were diagnosed with subclinical upper eyelid ptosis and included in this prospective study. The advancement required was estimated pre-operatively using a formula that we developed. Our surgical technique is presented in detail here, and our long-term results were analysed. RESULTS: From December 2019 to August 2022, 97 patients were included in this study. Sixty-five patients were primary cases and 32 were revision cases. The mean follow-up was 15 months. Of the 192 eyelids analysed, our formula was able to correctly identify the required fixation location in 69% of eyelids. In majority of the eyelids (94%), the correct location of fixation location within +/- 1 mm of the estimated location. All patients (100%) were satisfied with their long-term results. Our revision rate was 3%. CONCLUSIONS: Incorporating a precisely done levator advancement into the upper blepharoplasty in patients with subclinical ptosis is critical for optimizing the aesthetic and functional outcomes. This approach has enabled us to perform this procedure greater predictably in this group of patients. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Sector area index: a novel supporting marker for blepharoptosis screening and grading.

PURPOSE: To introduce a new supporting marker for discriminating different grades of ptosis called Sector Area Index (SAI) and a semi-automated technique to calculate it. METHODS: In this cross-sectional comparative case series, a circle enclosing the intercanthal distance was automatically drawn after choosing two points as the medial and lateral canthus and manually selecting the palpebral fissure region. Finally, 15-degree apart sectors are applied to the enclosed circle. SAI was measured automatically by dividing the area of each 15-degree sector marked with the upper eyelid contour by the total area of the sector marked with the edge of the surrounding circle. SAI values and inter-eye SAI differences were compared between patients with different grades of ptosis as well as normal patients. RESULTS: In the current study, 106 eyes were recruited (30, 25, 27, and 24 in the control, mild, moderate, and severe ptosis groups, respectively). Mean values of SAI in all sectors showed a decreasing trend from normal individuals toward patients with severe ptosis. The mean difference values of SAI between study eyes and fellow eyes in all four groups of patients showed a statistically significant difference (p < 0.05). In a pairwise comparison between groups, mean values of SAI in all nasal sectors from 15° to 60° showed a statistically significant difference between all groups (p < 0.05). CONCLUSION: The mean difference of SAI between study eyes and fellow eyes, including eyelid curvature, especially in 15°-60° and 120°-165° sectors, can demonstrate differentiating performance for detecting and discriminating varying grades of ptosis.

Case Report: Unilateral Hemispheric Hemorrhage with Bilateral Ptosis and Upgaze Palsy.

SIGNIFICANCE: Determining the anatomic location of insult in cases of concurrent bilateral upgaze palsy with bilateral ptosis can be challenging because of the various overlapping pathways and shared functions. It is more commonly related to bilateral oculomotor nerve palsies and myasthenia gravis. However, the possibility of unilateral cerebrovascular events may be overlooked because of the lack of laterality of disease manifestations. PURPOSE: This report documents the uncommon presentation of bilateral ptosis and upgaze palsy in unilateral hemispheric hemorrhage with the corresponding clinical and anatomical review. CASE REPORT: A 46-year-old gentleman presented to the emergency department with left-sided hemiplegia, concurrent bilateral ptosis, and upgaze palsy. He was found to have acute hemorrhagic stroke secondary to significantly elevated blood pressure. Computed tomography of the brain revealed acute extensive intraparenchymal hemorrhage involving the right basal ganglia, frontal lobe, and temporal lobe. There was an extension of hemorrhage into the third ventricle and subarachnoid extension to the Sylvian fissure with obstructive hydrocephalus. An emergency right craniotomy was performed to evacuate the blood clot, and the hydrocephalus subsequently resolved. Post-operatively, bilateral ptosis and upgaze palsy improved and then resolved. CONCLUSIONS: Acute bilateral ptosis and upgaze palsy suggest the possibility of unilateral hemispheric hemorrhage, even though there is no direct involvement of the brainstem and its nuclei.

Development and validation of a convolutional neural network to identify blepharoptosis.

Blepharoptosis is a recognized cause of reversible vision loss and a non-specific indicator of neurological issues, occasionally heralding life-threatening conditions. Currently, diagnosis relies on human expertise and eyelid examination, with most existing Artificial Intelligence algorithms focusing on eyelid positioning under specialized settings. This study introduces a deep learning model with convolutional neural networks to detect blepharoptosis in more realistic conditions. Our model was trained and tested using high quality periocular images from patients with blepharoptosis as well as those with other eyelid conditions. The model achieved an area under the receiver operating characteristic curve of 0.918. For validation, we compared the model's performance against nine medical experts-oculoplastic surgeons, general ophthalmologists, and general practitioners-with varied expertise. When tested on a new dataset with varied image quality, the model's performance remained statistically comparable to that of human graders. Our findings underscore the potential to enhance telemedicine services for blepharoptosis detection.

[A man with hanging eyelids]. / Een man met hangende oogleden.

A 73-year-old man came to the outpatient clinic because of diplopia and hanging eyelids. Neurological examination revealed fatigueable bilateral ptosis. The patient had a strong positive ice pack-test. Myasthenia gravis preached on top of the differential diagnosis. Subsequent blood tests showed antibodies against ACh-receptors and confirmed the diagnosis.

Clinical Reasoning: An Unusual Cause of Diplopia and Ptosis in a 67-Year-Old Woman.

Diplopia is a relatively common chief complaint encountered in an outpatient neurology clinic and carries a broad differential diagnosis. In this case, a 67-year-old woman presented with new horizontal, binocular diplopia and ptosis of 8-month duration, which persisted without significant progression. This case highlights the need for a comprehensive list of differential diagnoses for patients with acquired ophthalmoplegia and ptosis. Key learning points include an illustration of the stepwise diagnostic approach to evaluate for common etiologies, the importance of interpreting test results in the appropriate clinical setting, and the significance of recognizing specific signs and symptoms in achieving the correct diagnosis.

Clinical Reasoning: A 74-Year-Old Woman Presenting With Monocular Ptosis and Binocular Diplopia.

A 74-year-old woman presented with acute-onset right ptosis and binocular diplopia. CT scan showed low-density lesions in the bilateral basal ganglia and adjacent to lateral ventricles. Intracranial aneurysm was not detected. This case highlights the importance of neurologic localization of ophthalmoplegia based on physical examination and the microanatomy of the oculomotor nerve.