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Purpose: Since ptosis is an early feature of chronic progressive external ophthalmoplegia (CPEO), patients are commonly misdiagnosed with other causes of ptosis. This study aims to report the type and frequency of misdiagnosis and time lag to diagnosis and the palpebral fissure transfer (PFT) procedure in patients with CPEO., Methods: This is a retrospective analysis of consecutive patients with CPEO who underwent PFT between 2006 and 2017. The data on previous diagnoses and treatments, age at definitive diagnosis of CPEO, and clinical manifestations were recorded. While the diagnosis of CPEO was based on clinical examination, 75% (24/32) of patients had undergone a confirmatory muscle biopsy and genetic tests., Results: There were 32 patients (19 females) with a mean age of 24.8 years (range, 13-36) at the final diagnosis and 34.1 years (range, 15-56) at the time of PFT. Also, 78% (25/32) of patients had been initially misdiagnosed with congenital ptosis (60%; 15/25) and ocular myasthenia gravis (OMG) (40%; 10/25). The majority of patients (20/32) had one to three previous eyelid surgical procedures, of which 90% (18/20) were performed before the definitive diagnosis of CPEO. The mean time lag from the first surgical procedure to CPEO diagnosis and PFT was 6.2 and 14.7 years, respectively., Conclusion: In a referral center, 78% of the patients with CPEO were initially misdiagnosed with congenital ptosis and OMG, and 56% of them underwent ptosis repair before the diagnosis. While the onset of the disease was in the first or second decades of life, diagnosis was delayed up to a mean age of 25 years. Reviewing early family photos and paying attention to other signs of CPEO could prevent misdiagnosis., Competing Interests: Dr. Clark is a professional speaker for Horizon Therapeutics. No disclosure for the other authors., (Copyright © 2024 Karimi et al.)

Competing Interests: Conflicts of Interest: Jamshidian-Tehrani M, None; Ghahvehchian H, None; Compton CJ, None; Clark JD, speaker for Horizon therapeutics; West NL, None; Kashkouli MB, None.

Purpose: In response to the coronavirus (COVID-19) pandemic, teprotumumab production was temporarily halted with resources diverted toward vaccine production. Many patients who initiated treatment with teprotumumab for thyroid eye disease were forced to deviate from the standard protocol. This study investigates the response of teprotumumab when patients receive fewer than the standard 8-dose regimen., Methods: This observational cross-sectional cohort study included patients from 15 institutions with active or minimal to no clinical activity thyroid eye disease treated with the standard teprotumumab infusion protocol. Patients were included if they had completed at least 1 teprotumumab infusion and had not yet completed all 8 planned infusions. Data were collected before teprotumumab initiation, within 3 weeks of last dose before interruption, and at the visit before teprotumumab reinitiation. The primary outcome measure was reduction in proptosis more than 2 mm. Secondary outcome measures included change in clinical activity score (CAS), extraocular motility restriction, margin reflex distance-1 (MRD1), and reported adverse events., Results: The study included 74 patients. Mean age was 57.8 years, and 77% were female. There were 62 active and 12 minimal to no clinical activity patients. Patients completed an average of 4.2 teprotumumab infusions before interruption. A significant mean reduction in proptosis (-2.9 mm in active and -2.8 mm in minimal to no clinical activity patients, P < 0.01) was noted and maintained during interruption. For active patients, a 3.4-point reduction in CAS ( P < 0.01) and reduction in ocular motility restriction ( P < 0.01) were maintained during interruption., Conclusions: Patients partially treated with teprotumumab achieve significant reduction in proptosis, CAS, and extraocular muscle restriction and maintain these improvements through the period of interruption., Competing Interests: The following authors are consultant/advisor for Horizon: Christopher Compton, Suzanne Freitag, Andrew Harrison, John Holds, Andrea Kossler, Wendy Lee, Amina I Malik, Daniel Rootman, Sara Wester, Dianne Schlachter, Roman Shindler, Matthew Sniegowski. Suzanne Freitag: Poriferous LLC—consultant/advisor; WL Gore and Associates—consultant/advisor. Andrew Harrison: RVL Pharmaceuticals—consultant/advisor. John Holds: Revance Therapeutics—ownership interests; Cypris Medical—ownership interests. Alan Kahana: Stryker Corporation—consultant/advisor, BioTissue Inc.—consultant/advisor; Genentech, Inc Researcher. Andrea Kossler: RVL pharmaceuticals—consultant/advisor; Axogen Inc—consultant/advisor; Immunovant Inc—consultant/advisor. Wendy Lee: Allergan—consultant/advisor, Galderma—consultant/advisor, Revance—consultant/advisor, RVL pharmaceuticals—consultant/advisor, Mallinckrodt Pharmaceuticals—consultant/advisor, Evolus—consultant/advisor; RoC—consultant/advisor; Osmotica—consultant/advisor. Daniel Rootman: Celularity—consultant/advisor. The other authors authors have no financial or conflicts of interest to disclose., (Copyright © 2022 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: The safety profile of the transcutaneous medial canthal incision for access to the medial orbit is assessed with a focus on the risk of post-operative iatrogenic epiphora., Methods: A retrospective chart review of patients undergoing medial orbitotomy via the transcutaneous medial canthal incision was performed. Patients with a minimum of 3 months of follow-up were included and post-operative complications were assessed and characterized., Results: One-hundred-fifty patients were included in the study. A total of 4 complications were identified, including one each of the following: nasolacrimal duct obstruction, hypertrophic scar, suture granuloma and soft tissue infection. Only the nasolacrimal duct obstruction required surgical intervention., Discussion: Access to the medial orbit has been achieved through a variety of approaches, each with their own benefits and risk profile. The transcaruncular approach has increased in usage as a means to avoid a visible cutaneous scar and decrease the risk of iatrogenic epiphora, however, there are specific patients who may have relative contraindications to this approach. The current study demonstrates the low risk profile of the transcutaneous medial canthal incision, specifically the minimal risk of iatrogenic damage to the nasolacrimal outflow system. This approach is another useful tool which orbit surgeons should be familiar with to offer as an option to patients requiring medial orbitotomy., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Purpose: The aim of this study was to evaluate the efficacy of the nonporous polyethylene barrier sheet as an alternative for nylon foil (SupraFOIL) implants in repair of orbital fractures., Methods: This is a prospective, case series using the Stryker 0.4-mm-thick nonporous polyethylene barrier sheet in all patients over the age of 18 years presenting with orbital fractures from December 2014 to June 2015. Patient's age, location of fracture, etiology of injury, presence of preoperative restriction and diplopia, and postoperative diplopia and/or enophthalmos was recorded. Institutional review board approval was received, and consent was obtained from all participants. Patients were followed for at least 6 months when possible. Scanning electron microscopy was used to compare the thickness, surface characteristics, and porosity of the nonporous polyethylene barrier and nylon foil implants. Beam deflection testing was also performed to compare the biomechanical properties of each implant., Results: Forty-six patients who underwent repair of orbital fractures with the nonporous polyethylene barrier sheet were included in this series. Average age was 43.3 years (range: 18-84 years). Twenty-six of 46 patients (56.5%) were males, and 20 (43.4%) were females. The most common causes of injuries were assault (38.3%), falls (25.5%), motor vehicle accident (14.9%), and sports related (10.5%). Twenty of 46 patients (43.4%) had isolated orbital floor, and 2 patients (4.3%) had isolated medial wall fractures. Fifteen patients (32.6%) had combined floor and medial wall fractures involving the inferomedial orbital strut, and 9 (19.6%) had floor fractures associated with zygomaticomaxillary complex or lateral wall fractures. Twenty-eight patients (60.9%) had preoperative diplopia. Timing of surgery was between 3 and 55 days, with the median of 11.5 days. Five of 46 patients (10.8%) had residual diplopia at their 1-week postoperative visit, 4 of those patients' diplopia had resolved at 2 months postoperatively. One patient had residual diplopia at 6-month follow up. Electron microscopy showed that the 0.4-mm nonporous polyethylene barrier implant was thinner (0.33 mm) than expected and thinner than 0.4-mm SupraFOIL (0.38 mm). Scanning electron microscopy exhibited that the surface of the nonporous polyethylene barrier was smooth and nonporous. Beam deflection testing showed that for small forces (<100 mN), the 2 materials behaved nearly identically, but at higher forces, the nonporous polyethylene implant exhibited less stiffness., Conclusions: The use of nonporous polyethylene barrier sheet implant for orbital fracture repair is a safe and effective alternative to nonporous nylon foil implants. There were no complications and one case of residual diplopia (2.1%) in this case series.

A 13-month-old boy was presented with new onset proptosis of the right eye. CT scan and MRI showed an enhancing mass in the right superior orbit with local bone remodeling and erosion. A craniotomy was performed for biopsy and sub-total resection. Histopathology and immunohistochemistry confirmed the lesion to be nodular fasciitis. Nodular fasciitis lesions are classically found in the anterior ocular adnexa, especially in pediatric patients. This is the first reported case of nodular fasciitis arising in the posterior orbit of a child younger than 16.

Purpose: To describe the eyelid condition known as "floppy eyelid syndrome" and to present the results of our experience treating patients with floppy eyelid syndrome., Methods: A retrospective analysis of 16 patients from 2009 to 2013 who underwent combined medial canthopexy and lateral tarsal strip by two surgeons (HBL and WRN) for the treatment of floppy eyelid syndrome (FES). Age, gender, presence of obstructive sleep apnea (OSA), papillary conjunctivitis, punctate keratopathy and lash ptosis were recorded pre-operatively. Outcomes assessed included improvement in upper eyelid laxity, operative complications, post-operative symptomatic relief and delayed recurrence of FES., Results: A total of 18 procedures (on 36 eyelids) were performed on 16 patients over the 4-year period. All patients (18/18) had relief of symptoms and good functional results, defined as improvement in lid laxity and resolution of symptoms. Average follow up was 124days. 8 of 16 patients (50%) had a pre-existing diagnosis of OSA. The remaining 8 patients were referred for sleep study and 2 were subsequently diagnosed with OSA. Two patients experienced some degree of FES recurrence without return of symptoms. There was one complication reported in which a partial dehiscence of the lateral canthal tendon occurred which did not require operative revision., Conclusions: Combined medial canthopexy and lateral tarsal strip are a safe and effective technique for the treatment of floppy eyelid syndrome. There is a strong association of FES and OSA and it is important to have any patient diagnosed with FES evaluated for OSA., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: We report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene. The authors review the ophthalmic complications in Pfeiffer syndrome and discuss the unique surgical strategies used for obtaining adequate corneal coverage in these unique patients., Observations: Ophthalmic considerations in Type 2 Pfeiffer Syndrome include vision loss secondary to increased intracranial pressure, and extreme proptosis as a result of orbitostenosis and midfacial retrusion. Our patient has undergone multiple ophthalmic/oculoplastic, neurosurgical, and midfacial surgeries as a result of corneal deterioration due to extreme exorbitism., Conclusions and Importance: It is important for ophthalmologists to be aware of the ophthalmic complications associated with patients with craniosynostosis syndromes. Our case identifies the importance of close communication between ophthalmology and plastic reconstructive surgery to help formulate the most successful plan in treating corneal decompensation and proptosis in Pfeiffer Syndrome patients.

Purpose: To describe the prevalence of air regurgitation into the periocular region in continuous positive airway pressure (CPAP) patients with a history of conjunctivodacryocystorhinostomy with a Lester Jones tube and a dacryocystorhinostomy with silicone intubation, as well as problems caused by this regurgitation and methods to cope., Methods: A retrospective chart review of patients who either underwent a conjunctivodacryocystorhinostomy or dacryocystorhinostomy was performed. Patients were contacted via phone interview. Demographic information, history of sleep apnea, use of CPAP, and presence of air regurgitation and associated complications were recorded. Institutional review board/ethics committee approval was obtained., Results: Two patients who underwent a conjunctivodacryocystorhinostomy with Lester Jones tube and were on CPAP were identified. Both complained of air regurgitation, sensation of Lester Jones tube moving due to regurgitation, and periodic eye pain. Twenty-two patients who underwent a dacryocystorhinostomy with silicone stent and used CPAP were identified. Of these, 16 (72.7%) complained of air regurgitation. Difficulty sleeping (56.2%), dry eye symptoms upon waking (68.8%), eye pain upon waking (31.3%), and blurry vision upon waking (12.5%) were the commonest complaints due to air regurgitation. A total of 7 (43.7%) patients had to discontinue their CPAP at some point due to symptoms., Conclusions: This study brings to light the prevalence of air regurgitation in dacryocystorhinostomy procedures, and its associated symptoms. Given that this procedure is much more common than conjunctivodacryocystorhinostomy, surgeons should consider asking patients before performing surgery whether they use CPAP. Patients should be consented regarding the risk of air regurgitation and associated dry eye, foreign body sensation, and eye pain.

Purpose: To describe a technique to correct lower eyelid malposition and lagophthalmos due to facial nerve palsy., Methods: Chart review was performed and identified 13 patients with facial nerve palsy, who presented with paralytic eyelid malposition and were treated with recession and extirpation of the lower eyelid retractors between September 2012 and March 2014 by 1 surgeon (HBL)., Results: A total of 12 eyelids in 11 patients met inclusion criteria. Mean preoperative MRD2 was 10 mm (range, 9.0-12.0 mm) and the mean postoperative MRD2 was 7 mm (range, 5.0-9.0 mm). The MRD2 improved an average of 3.0 mm in each patient (range, 2.0-4.0 mm). Patients had an average of 6.9 mm (range, 4.0-10.0 mm) of lagophthalmos preoperatively, which improved to 2.1 mm (range, 0.0-4 mm). The amount of lagophthalmos improved an average of 4.8 mm in the patients. There were no complications encountered in the patients. All patients had a subjective improvement in ocular comfort., Conclusions: The authors' surgical technique is effective in addressing lower eyelid malposition and ocular surface disease in paralytic lagophthalmos.

Susac syndrome is a microangiopathy of unknown origin, probably autoimmune, affecting capillaries and precapillary arterioles of the brain, retina, and inner ear. It is often misdiagnosed as acute disseminated encephalomyelitis or multiple sclerosis. We report the case of a 25-year-old male with Susac syndrome who developed the clinical triad of encephalopathy, visual and hearing problems over the course of a year. The characteristic MRI findings including central corpus callosal involvement and brain infarctions were supported by branch retinal arterial/arteriolar occlusions on fluorescein retinal angiography. Most patients with Susac syndrome will not have the complete clinical triad initially. A very high index of suspicion is required by the clinician and radiologist in patients with any component of the clinical triad so as not to misdiagnose the MRI findings for demyelination. Even if initial ophthalmologic examinations are normal, these patients should be followed up for later development of branch retinal artery occlusions.

Purpose: To describe a novel surgical treatment for patients with chronic relapsing conjunctivitis, corneal epitheliopathy, and ptosis secondary to giant fornix syndrome., Methods: A retrospective case series was performed looking at the presence or absence of preoperative symptoms of eye irritation, tearing, blurry vision, and discharge in 6 patients diagnosed with giant fornix syndrome. Their examination findings were noted, and all patients underwent an extensive conjunctivoplasty with resection of redundant forniceal conjunctiva with subconjunctival antibiotics. Final visual acuity, symptoms, and examination findings were noted with a minimum follow up of 9 months., Results: Six patients were treated from November 2009 to November 2011. Duration of symptoms ranged from 3 to 40 months. Four patients were women while 2 were men, with age ranging from 61 to 85 years. Common symptoms were severe mucopurulent discharge, eye redness, tearing, and irritation with examination findings of severe conjunctival discharge and injection, corneal epitheliopathy, upper eyelid ptosis, and a deep upper and lower eyelid fornix. Most patients had undergone previous treatments with topical and/or oral antibiotics or steroids. All patients underwent surgical intervention using the surgical technique to be described with resolution of their symptoms, and even an improvement of 2 or more lines of best corrected visual acuity (3 of 5 patients)., Conclusions: The authors' novel surgical technique helps restore the abnormal anatomy found in patients with giant fornix syndrome and thus, helps resolve chronic relapsing conjunctivitis and surface disease associated with this often underdiagnosed condition. Further studies are needed to evaluate the risk of entropion and dry eye syndrome due to the modification of the posterior lamella.

Purpose: To estimate the risk of hemorrhagic complications associated with 25-gauge pars plana vitrectomy (PPV) when warfarin (Coumadin; Bristol-Myers Squibb, New York, NY) or clopidogrel (Plavix; Bristol-Myers Squibb) are continued throughout the surgical period, as compared with a control group., Design: A single-center, retrospective, cohort study of 289 consecutive patients receiving either warfarin therapy or clopidogrel therapy or neither of those therapies who underwent 25-gauge PPV., Participants: Included were 61 patients (64 eyes; 64 PPV procedures) in the warfarin group and 118 (125 eyes; 136 PPV procedures) in the clopidogrel group. Warfarin patients were subdivided into 4 groups by international normalized ratio (INR). A control group included 110 patients (110 eyes; 110 PPV procedures) who were not receiving warfarin or clopidogrel., Methods: Retrospective chart review for which the criteria included: 25-gauge PPV, minimum age of 19 years, warfarin or clopidogrel use, and, if taking warfarin, an INR obtained within 5 days of surgery., Main Outcome Measures: Incidence of intraoperative and postoperative hemorrhagic complications., Results: The most common indications for anticoagulation therapy included: atrial fibrillation (38%), valvular heart disease (17%), and thromboembolic disease (16%). The most common indications for antiplatelet therapy included: cardiac stent (49%), coronary artery bypass grafting (24%), and history of transient ischemic attack (16%). No patient experienced anesthesia-related hemorrhagic complications resulting from peribulbar or retrobulbar block. Transient vitreous hemorrhage occurred in 1 (1.6%) of 64 PPV procedures in the warfarin group (P = 0.6531), 5 (3.7%) of 136 PPV procedures in the clopidogrel group (P = 1.0), and 4 (3.6%) of 110 PPV procedures in the control group. No choroidal or retrobulbar hemorrhages occurred in any patient., Conclusions: The rate of 25-gauge PPV hemorrhagic complications in patients who underwent systemic anticoagulation or who were receiving platelet inhibitor therapy is extremely low. Given the risks associated with stopping these therapies, the authors recommend that patients continue their current therapeutic regimen without cessation., (Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants' false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants' diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child's carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11-14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.

After rapid correction of severe hyponatremia, a 36-year-old man developed osmotic demyelination syndrome (ODS), manifested neurologically by impaired cognition, extremity weakness, bilateral third cranial nerve palsies, and gaze-evoked upbeat and rotary nystagmus. Brain MRI showed restricted diffusion in the rostral midbrain and temporal and parietal lobes but not in the pons. Over several weeks, all neurologic and imaging deficits resolved. This is the first report to document ocular motor abnormalities associated with midbrain dysfunction in ODS.