Erdheim-Chester Disease With Eyelid and Orbital Involvement: A Review of Treatment Modalities at One Institution From 2014 to 2022.

PURPOSE: To review all cases of Erdheim-Chester disease (ECD) with orbital involvement treated at Bascom Palmer Eye Institute in Miami, Florida from 2014 to 2022 and compare presentations, treatment modalities, and outcomes. METHODS: A retrospective chart review of all patients diagnosed with ECD who presented to Bascom Palmer Eye Institute from 2014 to 2022 was performed. Data collected included demographics, pretreatment history and ophthalmic examination, pathology report, treatment, subsequent examination, and relevant laboratory results. Histopathology, treatments, and outcomes were reviewed and compared between patients. RESULTS: Four cases were included. Primary treatments included vemurafenib (n = 2), cobimetinib (n = 1), and prednisone (n = 1). All patients demonstrated improvement of ophthalmic symptoms. Vemurafenib was the only medical treatment that was tolerated well and resulted in significant improvement in proptosis despite some reported dry eye; all other medications were discontinued due to intolerable side effects. CONCLUSIONS: BRAF inhibitors such as vemurafenib have been used as novel therapy in the treatment of ECD. Vemurafenib demonstrated its utility in reducing proptosis in ECD patients at one ophthalmic institution. Vemurafenib may be a favorable treatment option for BRAF-positive ECD patients presenting with orbital disease.

Prevalence of Body Dysmorphic Disorder in Orbital Plastic Surgery and Its Relationship with the Use of Social Media.

BACKGROUND: The prevalence of body dysmorphic disorder (BDD) in the general population ranges from 0.7 to 2.4%; however, higher rates are seen among aesthetic patients. Given the recent rise in popularity of cosmetic surgery, particularly in the post-COVID pandemic setting, the authors hypothesize the prevalence has increased. The purpose of the study is to examine the prevalence of BDD in patients presenting to an oculoplastic surgery clinic at an academic center and determine correlation with social media use. METHODS: This is a survey of patients presenting to the oculoplastic surgery clinic. Participants completed the Dysmorphic Concern Questionnaire (DCQ), in addition to survey questions about social media use. Main outcomes included a positive screen and social media use. RESULTS: A total of 175 patients that presented to the oculoplastic and reconstructive surgery clinic were surveyed. All patients, including cosmetic, functional, and non-surgical, were offered participation in the survey. 9.13% of all patients screened positive for BDD. Patients that screened positive were more commonly female (71.43%). The distribution of patients with BDD was even between Hispanics (52.38%) and non-Hispanics, and 85.71% of patients with BDD were Caucasian. Of patients that screened positive, 71.43% use social media. CONCLUSIONS: The prevalence of BDD may have increased in the past seven years and is seen most in females and Caucasians. There is a positive correlation with social media, which has increased in popularity since the COVID-19 pandemic. It is important to maintain a high clinical suspicion for BDD and consider screening if there is concern. LEVEL OF EVIDENCE IV: 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 .

A rare case of mucoepidermoid carcinoma ex pleomorphic adenoma of the lacrimal gland.

Carcinoma ex pleomorphic adenoma (CEPA) of the lacrimal gland is a rare malignant tumor that arises from a pre-existing pleomorphic adenoma. Lacrimal gland CEPA with mucoepidermoid histological subtype is exceedingly rare. Diagnosis can be aided by radiographic findings, though the gold standard is histopathological analysis following excisional biopsy. Management options include complete surgical excision with or without adjuvant radiation therapy based on tumor grade and invasiveness. We present a 76-year-old woman with 6 months of diplopia and unilateral proptosis. Her initial exam was remarkable for hypoglobus, proptosis, and limited elevation of the right eye. Computed tomography (CT) scan demonstrated a superior, well-circumscribed, extraconal orbital mass. An excisional biopsy was performed, and histopathological findings were consistent with mucoepidermoid carcinoma ex pleomorphic adenoma with positive margins in the tumor capsule. The patient received radiation therapy and remains markedly improved with no disease recurrence at 5 months post-operatively.

Clinical and Optical Coherence Tomography Comparison Between Ocular Surface Squamous Neoplasia and Squamous Metaplasia.

PURPOSE: The purpose of this study was to compare the clinical characteristics and high-resolution optical coherence tomography (HR-OCT) findings between corneal squamous metaplasia and ocular surface squamous neoplasia (OSSN). METHODS: A retrospective case-control study of 8 patients, 4 with histologically confirmed squamous metaplasia and 4 with histologically confirmed OSSN, who presented to the Miami Veterans Administration Medical Center and Bascom Palmer Eye Institute between 2016 and 2020 was performed. Clinical characteristics, HR-OCT findings, and pathology were evaluated and compared. RESULTS: Four patients with squamous metaplasia and 4 with OSSN were evaluated. In the metaplasia group, 75% were male, 2 were White, and 2 were Black. In the OSSN group, all 4 were White males. All lesions were opalescent and occurred at the limbus; however, the borders were more smooth and rounded in the metaplastic lesions compared with OSSN. HR-OCT findings were indistinguishable between the 2 groups. CONCLUSIONS: There is overlap in clinical characteristics and HR-OCT findings between corneal squamous metaplasia and OSSN, highlighting one limitation of HR-OCT. As such, if a corneal opacity has some but not all HR-OCT findings of OSSN, squamous metaplasia should also be considered. A biopsy may be indicated to further evaluate and guide treatment.

Chronic anophthalmic socket pain in the setting of deep orbital pseudocysts.

An 89-year-old woman presented with chronic pain and foreign body sensation in a healthy-appearing anophthalmic socket. Computed tomography of the orbits showed hyperdense, cystic lesions superior and posterior to the orbital implant. Orbital exploration was performed; the orbital implant and lesions were removed. Histopathology revealed cystic structures composed of fibrocellular tissue lined with histiocytes and multinucleated giant cells, consistent with pseudocysts. Postoperatively, the patient noted the resolution of her symptoms. While the etiology of the pseudocysts remains unclear, we hypothesize that the answer can be traced back to the original surgery. The cysts may have formed after extravasation of fluid or proteinaceous material from the eye, from glycerin on the donor sclera, or after introduction of foreign material during retrobulbar injection of local anesthesia. This is the first report of pseudocysts occurring in the orbit posterior to an implant.

Response to Miles Kiernan Re: a rare case of mucoepidermoid carcinoma ex pleomorphic adenoma of the lacrimal gland.

Our goal is to contribute to the medical literature with our case of CEPA and hope to better help fellow clinicians diagnose and treat these rare tumors.

Subcutaneous tocilizumab for active thyroid eye disease refractory to orbital radiation and systemic steroids in tobacco smokers.

PURPOSE: Tocilizumab (TCZ) through intravenous infusion has been shown to effectively treat active thyroid eye disease (TED) refractory to systemic steroids. TCZ is also available as a self-administered subcutaneous injection, but data demonstrating the efficacy of this formulation are limited. This study investigated the efficacy and safety of subcutaneous TCZ (SC-TCZ) for the treatment of active, moderate-to-severe TED in smokers. MATERIALS AND METHODS: This retrospective clinical case series evaluated the clinical outcomes and adverse effects of SC-TCZ when taken for a minimum of 4 months by patients with moderate-to-severe TED and a current or recent history of cigarette smoking. RESULTS: Three patients received SC-TCZ every 1-2 weeks (4.6-11.2 mg/kg/month). The average pre-to-posttreatment clinical activity score reduction was 5.4, and proptosis was reduced by an average of 2.0 mm. No serious adverse effects were reported. CONCLUSION: SC-TCZ may be a useful and effective therapy for treating challenging cases of inflammatory TED and offers a safe alternative to office or hospital-based infusions. Further studies are needed to better understand optimal dosing regimens and relative efficacy compared to monthly TCZ infusions and other immunotherapies.

Use of Porcine Urinary Bladder Matrix in Socket Reconstruction After Pediatric Orbital Exenteration.

Reconstruction options after orbital exenteration can be challenging, time-consuming, and require intensive postoperative care. Engineered dermal acellular matrices offer a quick and easy option for wound healing that has proven to be successful in various settings. Specifically, the porcine urinary bladder matrix has demonstrated success in periocular and orbital wound healing. This report describes a pediatric patient who underwent repair with porcine urinary bladder matrix after orbital exenteration for recurrent alveolar rhabdomyosarcoma. The patient did not require any additional reconstructive procedures. To our knowledge, this is the youngest patient to receive a porcine urinary bladder matrix after exenteration.

Orbital Sarcoidosis Masquerading as Late Postoperative Blepharoplasty Complication: A Case Report.

Orbital sarcoid is a rare entity and may be the first manifestation of systemic sarcoidosis. We report a case of orbital sarcoidosis where diagnosis was complicated by a history of lower eyelid blepharoplasty. The patient presented with progressive swelling of the left lower eyelid, which was assumed to be a late complication of her surgery. After failing multiple treatments, MRI orbits was obtained and revealed an enhancing lesion in the left orbit inseparable from the lacrimal gland and inferior oblique muscle. Biopsy showed noncaseating granulomatous inflammation, and the patient was eventually diagnosed with sarcoidosis.

Acute abducens nerve palsy following COVID-19 vaccination.

We report the case of a healthy 59-year-old woman who presented with an acute abducens nerve palsy 2 days after receiving the Pfizer-BioNTech COVID-19 vaccine. In adults, such palsies are typically caused by microvascular disease or compressive tumors, although they have also been described after routine vaccinations. Given the temporal relationship between vaccination and the onset of symptoms, the lack of preexisting medical conditions, and unremarkable magnetic resonance imaging, the patient's abducens nerve palsy was felt to be related to her vaccination. This case highlights the importance of recognizing the potential of a COVID-19 vaccine to have neurologic sequelae similar to those that as have been reported with the virus itself as well as with other vaccines.

Idiopathic Intracranial Hypertension in a Mother and Pre-pubertal Twins.

Idiopathic intracranial hypertension is a syndrome of elevated intracranial pressure without an identifiable cause. The majority of cases appear to be sporadic, and incidence is highest in obese women of childbearing age. The role of genetics in the pathophysiology of the disease is unclear, and familial cases are rare. We report a familial occurrence in a mother and her twin, 5-year-old sons.

Carboplatin-associated Cranial Neuropathy.

Carboplatin is a platinum-based chemotherapeutic agent used for the treatment of many solid tumors. Peripheral neuropathy is a common side effect; but, to our knowledge, ocular motor cranial neuropathies have not been reported in the literature. We describe a case of persistent third and fourth nerve palsies after systemic administration of intra-arterial carboplatin for glioblastoma multiforme. Neither nerve regained function after carboplatin was stopped.

Prolongation of Relaxation Time in Extraocular Muscles With Brain Derived Neurotrophic Factor in Adult Rabbit.

PURPOSE: We tested the hypothesis that short-term treatment with brain derived neurotrophic factor (BDNF) would alter the contractile characteristics of rabbit extraocular muscle (EOM). METHODS: One week after injections of BDNF in adult rabbit superior rectus muscles, twitch properties were determined in treated and control muscles in vitro. Muscles were also examined for changes in mean cross-sectional areas, neuromuscular junction size, and percent of myofibers expressing specific myosin heavy chain isoforms, and sarcoendoplasmic reticulum calcium ATPases (SERCA) 1 and 2. RESULTS: Brain derived neurotrophic factor-treated muscles had prolonged relaxation times compared with control muscles. Time to 50% relaxation, time to 100% relaxation, and maximum rate of relaxation were increased by 24%, 27%, and 25%, respectively. No significant differences were seen in time to peak force, twitch force, or maximum rate of contraction. Brain derived neurotrophic factor treatment significantly increased mean cross-sectional areas of slow twitch and tonic myofibers, with increased areas ranging from 54% to 146%. Brain derived neurotrophic factor also resulted in an increased percentage of slow twitch myofibers in the orbital layers, ranging from 54% to 77%, and slow-tonic myofibers, ranging from 44% to 62%. No significant changes were seen SERCA1 or 2 expression or in neuromuscular junction size. CONCLUSIONS: Short-term treatment with BDNF significantly prolonged the duration and rate of relaxation time and increased expression of both slow-twitch and slow-tonic myosin-expressing myofibers without changes in neuromuscular junctions or SERCA expression. The changes induced by BDNF treatment might have potential therapeutic value in dampening/reducing uncontrolled eye oscillations in nystagmus.

Visual evaluation of the larynx and hypopharynx during esophagogastroduodenoscopy: a safety and feasibility study.

BACKGROUND: The larynx and hypopharynx are common sites for head and neck cancer, which shares many risk factors with upper digestive tract disease. Patient survival with malignancies depends on stage at the time of diagnosis. Endoscopic screening of the hypopharynx is neither routinely performed in clinical practice nor has it been evaluated in a formal study. METHODS: This is a prospective pilot study of patients undergoing routine EGD. Demographic data were collected from patients prior to the procedure. All patients in the study underwent an EGD and prior to performing the standard portion of the EGD procedure, the endoscopist evaluated the larynx and hypopharynx with both white light endoscopy (WLE) and narrow band imaging (NBI). Details of the procedure, including ability to see all anatomic structures, time spent, complications, and findings, were recorded. RESULTS: A total of 111 patients were included in the study. The exam of the laryngopharynx was completed in 87% of patients (97/111). Reasons for incomplete exam included intubated patients (2/14), inadequate sedation (9/14), and inability to see the entire hypopharynx (3/14). The mean time of the WLE was 20.2 s, while the NBI evaluation took 15.6 s for a mean and 35.8 s for the entire exam of the larynx and hypopharynx. Minor procedural complications occurred in 3/11 (2.7%) of the patients and included hypotension, tachycardia, and hypoxia. There were 6 patients who had hypopharyngeal abnormalities seen on both WLE and NBI (5.4%) and were subsequently referred to otolaryngology. Of the six referrals, one patient had a vocal cord biopsy showing leukoplakia, while the others were deemed normal anatomic variants. CONCLUSIONS: Evaluation of the hypopharynx can be accomplished by gastrointestinal endoscopists at the time of EGD in the vast majority of patients in a safe manner while adding only about 35 s to the overall exam time.