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.

Orbital Abscess Secondary to Nasolacrimal Duct Obstruction in an Extremely Preterm Infant.

Orbital abscesses are rarely encountered in children younger than 1 year. The literature is limited to isolated case reports and a few case series. Most such cases are reported in infants born at term, with the earliest reported gestational birth age at 34 weeks. Children are more prone to orbital cellulitis compared with adults due to their underdeveloped sinuses and immature immune systems, and the origin is most commonly an ethmoid sinus infection. Orbital cellulitis secondary to dacryocystitis is even less common, with only a few isolated cases reported in infants and children. Herein, the authors present a case of a large extraconal and intraconal orbital abscess secondary to nasolacrimal duct obstruction and dacryocystitis in an extremely preterm infant. We discuss the diagnosis and multidisciplinary management of this challenging case.

Orbital Gas after 25-Gauge Pars Plana Vitrectomy with Incorrect Gas Mixture.

We present 2 cases of sutureless 25-gauge pars plana vitrectomy and fluid-gas exchange, in which incorrect gas concentrations likely led to elevated intraocular pressures and retrobulbar gas. Combined removal of orbital gas with anterior orbitotomy and pars plana vitrectomy was performed in the first case to address expanding intraocular and retrobulbar gas resulting from a suspected error in gas dilution. Vitreous and orbital gas removal by needling was effective in the second case. In patients with elevated intraocular pressure and orbital gas accumulation after vitrectomy, combined intraocular and orbital decompressions were effective in optimizing clinical outcomes. There is no consensus regarding the best management of orbital gas after vitrectomy. We propose that a multidisciplinary technique should be considered, when available.

Spatial Transcriptomics Identifies Expression Signatures Specific to Lacrimal Gland Adenoid Cystic Carcinoma Cells.

Although primary tumors of the lacrimal gland are rare, adenoid cystic carcinoma (ACC) is the most common and lethal epithelial lacrimal gland malignancy. Traditional management of lacrimal gland adenoid cystic carcinoma (LGACC) involves the removal of the eye and surrounding socket contents, followed by chemoradiation. Even with this radical treatment, the 10-year survival rate for LGACC is 20% given the propensity for recurrence and metastasis. Due to the rarity of LGACC, its pathobiology is not well-understood, leading to difficulties in diagnosis, treatment, and effective management. Here, we integrate bulk RNA sequencing (RNA-seq) and spatial transcriptomics to identify a specific LGACC gene signature that can inform novel targeted therapies. Of the 3499 differentially expressed genes identified by bulk RNA-seq, the results of our spatial transcriptomic analysis reveal 15 upregulated and 12 downregulated genes that specifically arise from LGACC cells, whereas fibroblasts, reactive fibrotic tissue, and nervous and skeletal muscle account for the remaining bulk RNA-seq signature. In light of the analysis, we identified a transitional state cell or stem cell cluster. The results of the pathway analysis identified the upregulation of PI3K-Akt signaling, IL-17 signaling, and multiple other cancer pathways. This study provides insights into the molecular and cellular landscape of LGACC, which can inform new, targeted therapies to improve patient outcomes.

Subpalpebral Antibiotic Lavage for the Treatment of Refractory Infectious Scleritis.

Infectious scleritis is a potentially devastating condition that can result in severe vision loss. When traditional management fails, a subpalpebral antibiotic lavage system (SAL) can be considered to bathe the infected area with a high volume and concentration of antibiotics. Several reports show that this method can be curative for infectious scleritis, otherwise refractory to care. However, surgical approaches for this technique are either not well described, advocate for transecting the levator aponeurosis, or do not expose the entire width of the superior fornix, which can lead to postoperative ptosis. The authors describe a case where a novel approach was utilized, using a fenestrated angiocather in the superior lateral fornix, to maximize outcomes and minimize postoperative complications. In the setting of infectious scleritis refractory to traditional management, a SAL can be safely and effectively placed with the technique detailed in this report.

Recurrent Periorbital Edema Associated With Retained Foreign Body After Filler Injection.

A 34-year-old man presented with recurrent bilateral periorbital swelling and pain for 16 years after receiving facial fillers of an unknown substance in a hotel room from a stranger claiming to work in a medical office. Exam demonstrated a firm, mildly tender nodule along the right upper cheek. Imaging revealed a tubular hyperdensity in the right premaxillary soft tissues. Lower eyelid and upper cheek dissection resulted in retrieval of a tubular metallic foreign body consistent with a needle. Histopathology of surrounding tissue demonstrated iron deposition with granulomatous inflammation. Periocular fillers are a common aesthetic procedure. Although generally well-tolerated, complications include inflammatory reactions, infection, necrosis, and vision loss. This case highlights retention of a metallic foreign body, a complication of filler injection that has not been previously reported, emphasizing the importance of careful injection technique by licensed professionals and imaging and surgical exploration if a foreign body is suspected.

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.

Levator Palpebrae Superioris With Inferior Oblique Muscle Flaps for Total Ocular Surface Reconstruction.

A healthy middle-aged man sustained extensive burns after a motor vehicle accident, including fourth-degree burns to the ocular adnexa. He had bilateral eyelid necrosis with complete tissue loss to the orbital rim. Progressive corneal thinning occurred bilaterally despite frequent lubrication, weekly amniotic membrane placement, and a Gunderson flap, ultimately requiring evisceration of his OS. In accordance with family wishes to perform all interventions for the OD, he underwent ocular surface reconstruction with levator palpebrae superioris (LPS) and inferior oblique (IO) muscle flaps, supplemented with an orbital fat transfer and bucket-handle muscle flap. These flaps were covered with porcine urinary bladder matrix and remained viable with complete globe coverage postoperatively. Although local eyelid flaps traditionally involve tissue supplied by branches of the external carotid artery, this case suggests that orbital-internal carotid artery based flaps utilizing the LPS and IO muscles may achieve ocular surface coverage after complete periocular and facial soft tissue loss.

Acute Onset Endophthalmitis Following Bilateral Upper and Lower Eyelid Blepharoplasty.

A 59-year-old woman presented with iritis and uveitis in the OD approximately 3 weeks after she underwent a bilateral upper and lower blepharoplasty by an outside oculoplastic specialist. Examination revealed a visual acuity of hand motion in the OD, scleral ulceration suspicious for prior globe perforation, dense vitritis, and loculations and membranes on echography. The patient was diagnosed with acute onset exogenous endophthalmitis. Vitreous aspiration and intravitreal injection of vancomycin and ceftazidime were performed. The patient underwent a pars plana vitrectomy, and vitreous culture demonstrated Streptococcus pseudoporcinus . Postoperative vision improved to 4/200 but was limited by a full-thickness macular hole. Despite silicone oil removal and macular hole repair, the macular hole remained open at month 7 and limited vision to 5/200. During eyelid surgery, surgeons should take precautions against intraoperative needle perforation including possible use of protective shield. Postoperative vision loss after eyelid surgery requires further evaluation.

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.

Cutaneous T-cell lymphoma of the eyelid masquerading as dermatitis.

Cutaneous T-cell lymphoma (CTCL) may pose a diagnostic challenge for physicians, as clinical presentation and histologic analysis may mimic benign dermatologic conditions. The authors present a case of recurrent CTCL in which the recurrence was limited to the eyelid and misdiagnosed as a contact dermatitis. To the best of the authors' knowledge, this is the first reported case of recurrent CTCL that has presented solely as dermatitis of the eyelid.

Orbital marginal cell lymphoma and mantle cell lymphoma subclone in patient with monoclonal gammopathy of unknown significance.

Indolent lymphomas have the potential to transform into more aggressive phenotypes. This phenomenon is best exemplified by the transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma into diffuse large B-cell lymphoma. However, it is less common to find multiple small cell lymphomas in the orbit, particularly mantle cell lymphoma. We present a case of an extranodal marginal zone lymphoma arising in the orbit that acquired a subclonal t(11;14) (q13;32) CCND1-IGH translocation, giving rise to a subclone of mantle cell lymphoma. The management of this tumor was targeted towards the more aggressive mantle cell subclone. The tumor exhibited an incomplete response to rituximab alone. To the best of the authors' knowledge, this represents the first such case to be described irrespective of site of origin.

Comparing Image Segmentation Techniques for Determining 3D Orbital Cavernous Hemangioma Size on MRI.

PURPOSE: To measure orbital cavernous hemangioma size using 3 segmentation methods requiring different degrees of subjective judgment, and to evaluate interobserver agreement using these methods. METHODS: Fourteen patients with orbital cavernous hemangiomas were included in the study. Pretreatment T2-weighted MRIs were analyzed by 2 observers using 3 methods, including 1 user-dependent image segmentation method that required high degrees of subjective judgment (ellipsoid) and 2 parameter-dependent methods that required low degree of subjective judgment (GrowCut and k-means clustering segmentation). Interobserver agreement was assessed using Lin's concordance correlation coefficients. RESULTS: Using the ellipsoid method, the average tumor sizes calculated by the 2 observers were 1.68 ml (standard deviation [SD] 1.45 ml) and 1.48 ml (SD 1.19 ml). Using the GrowCut method, the average tumor sizes calculated by the 2 observers were 3.00 ml (SD 2.46 ml) and 6.34 ml (SD 3.78 ml). Using k-means clustering segmentation, the average tumor sizes calculated by the 2 observers were 2.31 ml (SD 1.83 ml) and 2.12 ml (SD 1.87 ml). The concordance correlation coefficient for the ellipsoid, GrowCut, and k-means clustering methods were 0.92 (95% CI, 0.83-0.99), 0.12 (95% CI, -0.21 to 0.44), and 0.95 (95% CI, 0.90-0.99), respectively. CONCLUSIONS: k-means clustering, a parameter-dependent method with low degree of subjective judgment, showed better interobserver agreement compared with the ellipsoid and GrowCut methods. k-means clustering clearly delineated tumor boundaries and outlined components of the tumor with different signal intensities.

Adult xanthogranulomatous disease of the orbit: case report of spontaneous regression and review of treatment modalities.

Adult xanthogranulomatous disease of the orbit is a rare and incompletely understood entity. It can be limited to the orbit or be associated with systemic disease. While routine systemic surveillance is the standard of care for patients with orbital xanthogranulomatous disease, there is no universally accepted protocol for managing periorbital and orbital involvement. The authors report a case of adult orbital xanthogranuloma, without systemic disease, who, after 10 years of observation, demonstrated sustained radiographic regression of the lesions. To the authors' knowledge, this represents one of the first reports of spontaneous regression of untreated orbital xanthogranuloma, and supports observation of lesions that do not compromise ocular function. We present our case in the context of a major review of various treatment strategies described in the literature, including surgical resection, radiotherapy, plasmapheresis, corticosteroids, multiple immunomodulatory medications.

Effect of Topical Periocular Steroid Use on Intraocular Pressure: A Retrospective Analysis.

PURPOSE: To study the effect of periocular steroid use on intraocular pressure (IOP). METHODS: Charts of adult patients with atopic dermatitis or eczema treated with topical periocular steroid creams and ointments from January 1st, 2007 to October 1st, 2017 were reviewed. Patients with the following were excluded: glaucoma, ocular hypertension, known systemic/topical/injectable steroid history, and lack of documented IOP prior to or during treatment with periocular steroid ointment. Patient data were collected regarding gender, treatment regimen, as well as IOP prior to and during treatment. Steroid responders were identified. Statistical analysis was performed using linear mixed effects models adjusting for follow-up time to test the relationship between pre and posttreatment IOP change adjusting for intereye correlations. RESULTS: Thirty-one patients were identified. Twenty-one were treated bilaterally and 10 unilaterally. Five patients were glaucoma suspects. The mean treatment period was 14.2 weeks with a range of 0.1-83.9 weeks. Patients were treated with fluorometholone (42%), loteprednol etabonate (23%), dexamethasone-neomycin-polymyxin B (13%), hydrocortisone 1% or 2.5% (3%), and tobramycin-dexamethasone (19%). In the combined sample, there was no significant IOP change even after adjusting for follow-up time (mean change: +0.44 mm Hg, p = 0.126). However, eyes with baseline IOP ≥ 14 mm Hg had a significant increase (+0.73 mm Hg/year, p = 0.032). Individual steroid responses included the following: 1 intermediate and 30 low responders, of which 19 patients had an IOP change of <1 mm Hg. One patient had a clinically significant intermediate steroid response of 7 mm Hg. CONCLUSIONS: Periocular steroid treatment causes a statistically significant rise in IOP in eyes with higher baseline IOP measurements, the risk of which increases with follow up. While this change is not always correlated with a clinically significant rise in IOP, clinicians should monitor more closely patients at greatest risk of steroid response.

Preseptal Upper Eyelid Lipoma.

Superficial subcutaneous lipomas are benign, slow-growing neoplasms comprised mature adipose cells that may be surrounded by a fibrous tissue capsule. While found commonly on the body, simple lipomas are rarely described in the eyelids. Reports of two eyelid lipomas in the literature describe the anatomy to be posterior to the orbital septum. The presenting authors report the case of a simple lipoma of the eyelid found fully in the preseptal plane. Lipomas can occur anterior to the orbital septum and should be considered in the differential when presented with a painless, slow-growing eyelid mass in adults.

Multilobular dermoid cyst of the orbit.

Dermoid cysts are histologically defined as surface epithelium encapsulating an inner lumen. They are well described in the literature as discrete, single masses, either circumscribed or dumbbell-shaped, with or without a longstanding fistula. Chronic granulomatous inflammation is often a feature of dermoid cysts, contributing to local soft tissue and bony destruction. Isolated multicystic dermoids are not well described. We present a case of a multilobular dermoid characterized both radiographically and histopathologically. These findings may be attributed to repeated rupture and reformation of the dermoid cyst. When possible, our experience favours early excision of orbital dermoid cysts to minimize morbidity.