Bilateral Dacryocystoceles in Congenital Arhinia.

Congenital arhinia is a rare anomaly characterized by a syndrome called Bosma arhinia microphthalmia syndrome. A 22-year-old woman with a history of congenital arhinia presented with bilateral discharge and enlarged bilateral lacrimal sacs, with imaging consistent with bilateral dacryocystoceles and complete absence of nasal structures. This is the first case in the literature that describes surgical management of bilateral dacryocystoceles in a patient with Bosma arhinia microphthalmia syndrome.

Recalcitrant postoperative bleeding after ectropion repair in the setting of undiagnosed chronic disseminated intravascular coagulation.

Disseminated intravascular coagulation (DIC) is characterized by abnormal activation of the coagulation cascade, which leads to simultaneous hypercoagulation and excessive bleeding. While it typically occurs in systemic diseases, such as infection, inflammation, obstetric complications, and malignancy, it can rarely manifest postoperatively. This case report describes a patient who presented with prolonged, refractory bleeding after ectropion repair via a lateral tarsal strip procedure. Due to the inability to control the patient's bleeding with conservative measures followed by surgical exploration and electrocautery, the patient underwent a hematologic work-up. Laboratory studies were consistent with DIC, attributed to his large burden of endovascular stents. He was treated with anticoagulation using apixaban in addition to tranexamic acid to achieve lasting hemostasis. This case highlights the importance of thorough preoperative assessments, even for minor surgical procedures, and systemic workup for atypical postoperative bleeding.

Change in upper eyelid position after teprotumumab treatment for thyroid eye disease.

PURPOSE: Despite the high prevalence, treatment challenges, and significant impact of eyelid retraction on vision and quality of life among patients with thyroid eye disease, the effects of teprotumumab on eyelid retraction are not fully understood. This study evaluated change in upper eyelid position after teprotumumab. METHODS: A retrospective study of all patients who completed eight teprotumumab infusions at one institution from January 1 2020 to December 31 2022. Primary outcome was change in upper eyelid position immediately after treatment and at most recent follow-up compared to pre-treatment. RESULTS: Among 234 eyes of 118 patients, average margin reflex distance-1 (MRD1) pre-treatment was 5.25 mm (range 0-10.0, SD 1.75), 4.66 mm (1.0-9.0, SD 1.32) immediately post-treatment (p < 0.001), and 4.50 mm (0-10.0, SD 1.52) at most recent follow-up (mean follow-up duration 10.60 months). In total, 136 (58.12%) eyes of 88 patients had MRD1 reduction immediately post-treatment, averaging 1.49 mm (0.5-5.0 mm, SD 0.97). Every 1-mm increase in pre-treatment MRD1 increased the odds of MRD1 reduction by 15.03% (CI 10.52-19.72, p < 0.001) and increased the reduction amount by 0.48 mm (CI 0.39-0.57, p < 0.001). Of 154 eyes of 78 patients with most recent follow-up, 107 (69.48%) eyes had stable or further improved retraction at most recent follow-up compared to immediately post-treatment. CONCLUSIONS: This study found a modest but significant reduction in MRD1 in approximately 60% of eyes, independent of proptosis change, which was sustained by most patients over longer-term follow-up. Higher pre-treatment MRD1 corresponded with greater improvement. These results suggest an overall mild benefit of teprotumumab for upper eyelid retraction.

Antisynthetase Syndrome Causing Necrotizing Myositis Involving Extraocular Muscles.

The authors describe the clinical, histologic, and serologic findings of a patient with necrotizing myositis of the extraocular muscles in the setting of antisynthetase syndrome, as well as subsequent management. This is the first case in the literature of a systemic necrotizing myositis to have associated ophthalmic findings.

Melanoma Arising Beneath the Lateral Rectus Muscle in a Teenager With Ocular Melanocytosis: Possible Origin From Intrascleral Melanocytes.

Ocular melanocytosis is a well-established risk factor for choroidal melanomas but, despite its reported associations in the literature, it is infrequently discussed in relation to orbital melanomas. The authors describe a teenage patient with ocular melanocytosis who presented with an asymptomatic ipsilateral right orbital mass associated with the lateral rectus muscle. An exploratory orbitotomy revealed a lesion lightly adherent to the underlying sclera. Histopathology demonstrated a markedly atypical epithelioid melanocytic proliferation, bound by a thin rim of superficial sclera, implying an origin from intrascleral melanocytes, likely within an emissary canal. Next-generation sequencing identified GNAQ and NF1 mutations. The histopathology and molecular genetics designated the lesion as having a uveal melanoma-like profile, suggesting that it may behave as a choroidal melanoma. This case underscores the importance of the association between ocular melanocytosis and orbital melanoma and provides additional evidence for primary orbital melanoma etiopathogenesis.

Proptosis Regression After Teprotumumab Treatment for Thyroid Eye Disease.

PURPOSE: This study analyzed the degree and timing of proptosis regression after teprotumumab therapy. METHODS: A retrospective study of all patients who completed 8 teprotumumab infusions at 1 institution from January 1, 2020 to December 31, 2022. Change in proptosis was assessed in millimeters and percentages compared with immediate post-treatment and pretreatment proptosis. RESULTS: Of 119 patients with post-treatment data (mean follow-up 10.56 months, range: 3.05-25.08), 208 (87.39%) eyes of 110 patients had initial proptosis improvement. Of the 78 patients with multiple follow-up visits, 102 (65.38%) eyes of 59 patients had proptosis regression averaging 12.78% (range: 1.85-58.82%) compared with immediately post-treatment or 2.43 mm (0.5-10.0 mm). Eight (7.84%) eyes had initial documentation of regression more than 1 year after treatment, 40 (39.22%) between 6 months and 1 year, and 54 (52.94%) eyes within 6 months with 25 (46.30%) of these continuing to worsen at subsequent follow-up. Forty (25.64%) eyes of 24 patients had more proptosis at most recent follow-up than before teprotumumab, with an average regression of 1.53 mm (0.5-4.0 mm) or 7.74% (1.85-20.69%) of pretreatment proptosis. In comparison, 99 (63.46%) eyes of 54 patients maintained improvement, with reduction averaging 3.13 mm (0.5-11.0 mm) or 13.19% (1.92-41.67%) of pretreatment proptosis ( p < 0.001). CONCLUSIONS: Two-thirds of eyes had regression despite initial teprotumumab response, typically within 1 year of treatment, with ongoing worsening over time. Most patients maintained some proptosis reduction compared with before treatment despite regression, although 25% were worse than pretreatment. The occurrence of regression was independent of the pretreatment duration of clinical thyroid eye disease. Overall, compared with preteprotumumab, there was a greater amount of improvement than regression at most recent follow-up.

Hyperglobus and Pseudoptosis in Type 1 Lipogenic Thyroid Eye Disease.

Purpose: We present a case of Type 1 (lipogenic) Thyroid Eye Disease (TED) and our aim is to describe an atypical presentation of a rare orbital process. Observations: A man in his 50s presented with left-sided eyelid drooping. His exam showed no evidence of active inflammation but did show left hyperglobus and ipsilateral upper eyelid pseudoptosis. He had no prior history or symptoms of Graves' Disease and imaging did not show evidence of extraocular muscle enlargement, bony asymmetries, or masses in the orbit. Subsequent lab work showed a low TSH (thyroid-stimulating hormone), elevated free T4 (thyroxine) and T3 (triiodothyronine), and elevated TSI (thyroid-stimulating immunoglobulin) index. Conclusions and importance: This is a unique and atypical presentation of a patient diagnosed with Type 1 (lipogenic) TED causing hyperglobus and pseudoptosis secondary to fat expansion in the absence of other classic TED findings such as contralateral eyelid retraction or extraocular muscle enlargement. Thyroid eye disease can have a heterogenous disease presentation, as evidenced by this case, and should always be considered in the differential diagnosis of pseudoptosis.

Clear Cell Syringoma of the Eyelids, a Distinctive Histopathologic Variant Associated with Diabetes Mellitus.

The authors describe the clinical and histologic findings of the clear cell variant of syringoma. Three adult female patients (age range 39-76 years old) were found to have multiple, flesh-colored lower eyelid papules, clinically consistent with syringomas, but histologically displaying abundant clear cell change. Two patients had known diagnoses of uncontrolled diabetes.

Orbital Inflammation Following COVID-19 Vaccination.

Three patients presented with periorbital swelling, pain with extraocular movements, and binocular diplopia 1-4 days after receiving an mRNA Coronavirus Infectious Disease-19 (COVID-19) vaccine (BNT162b2, Pfizer/BioNTech; mRNA-1273, Moderna). All patients had a normal afferent function, unilateral limitation of extraocular motility, proptosis, and periorbital inflammation. Neuroimaging of the orbits with contrast revealed inflammation and enlargement of extraocular muscles in 2 cases and the lacrimal gland in 1 case. In all 3 cases, an extensive infectious and inflammatory laboratory work-up was unremarkable and signs and symptoms of orbital inflammation rapidly improved to complete resolution after treatment with high-dose oral prednisone. This is the first reported series of orbital inflammation occurring shortly after administration of the COVID-19 vaccine. Clinicians may consider an inflammatory postvaccine etiology as an alternative to presumed idiopathic diagnosis in such cases.

Lower eyelid malposition following repair of complex orbitofacial trauma.

PURPOSE: To compare the incidence of lower eyelid malposition following repair of isolated orbital floor fractures with that of complex orbitofacial fractures (defined as multi-wall fractures or prior orbital fracture repairs requiring revision) by oculofacial plastic surgeons via a transconjunctival or swinging eyelid approach. METHODS: Retrospective review of 175 patients who underwent surgical repair of orbital fractures at our institution. The primary outcomes were the occurrence of lower eyelid malposition (ectropion, entropion, and eyelid retraction) and the need for subsequent surgical correction. RESULTS: Of 95 patients with isolated orbital floor fractures, 4 developed eyelid malposition (4.2%), 1 of which required surgical repair (1.1%). Of 80 patients with complex orbitofacial fractures (48 multi-wall fractures, 32 secondary revisions), 10 had pre-operative eyelid malposition and were excluded from further analysis. Fourteen of the remaining 70 patients developed postoperative eyelid malposition (20%), 3 of which required surgical repair (4.3%). The difference in the occurrence of eyelid malposition between groups was statistically significant (p = .001), but the difference in rates of those requiring subsequent repair was not (p = .182). There was no statistically significant difference in the occurrence of eyelid malposition when considering other surgical factors including lateral canthotomy, conjunctival closure, implant material, or anterior rim screws. CONCLUSIONS: The incidence of lower eyelid malposition following orbital fracture repair via a fornix-based approach was significantly higher for the repair of complex orbitofacial fractures than for isolated floor fractures. However, very few patients in either group required surgical repair for eyelid malposition. Surgical factors including implant material did not affect outcomes.

Granular Cell Tumor of the Orbit: Review of the Literature and a Proposed Treatment Modality.

PURPOSE: To document a unique case of granular cell tumor of the orbit, located lateral to and abutting the optic nerve, that benefited from treatment with proton beam irradiation, with a comprehensive review of the literature on granular cell tumor of the orbit. METHODS: Clinicopathologic case report with detailed imaging features and histopathologic and immunohistochemical evaluation for cytoplasmic tumor biomarkers differentiating granular cell tumor (GCT) from it mimicking lesions with relevant literature citations. The authors reviewed 20 cases of orbital GCT from 2011 to 2020 in addition to 40 cases from 1948 to 2011 and included a summary of imaging and clinical features, outcomes, and recommended treatment modalities. RESULTS: A 32-year-old man with 1-year history of left retrobulbar pain and diplopia on lateral gaze, intermittent left eyelid swelling, and a tonic left pupil was found to have a fusiform intraconal mass extending toward the orbital apex and abutting the optic nerve. Histopathologic and immunohistochemical investigations collectively supplied data diagnostic of a GCT with an initial low proliferation rate. GCT is a soft tissue neoplasm that originates in the nervous system and can occur anywhere in the body. This enhancing tumor is isointense to gray matter on T1-weighted MRI, hypointense on T2. After an incisional biopsy, the patient's symptoms persisted, and follow-up imaging several months later revealed further growth of the mass. The impossibility of complete surgical removal prompted the decision to treat with proton beam radiation therapy, which resulted in substantial regression in the size of the residual tumor. Most frequently involving the inferior rectus muscle (42%), orbital GCT is usually benign with only 4 reported cases of malignant orbital GCT (7%). Wide surgical resection with complete removal is usually curative for benign orbital GCT, and proton beam radiation therapy can aid in tumor shrinkage. CONCLUSIONS: GCT should be considered in the differential diagnosis when encountering patients with mass lesions involving the extraocular muscles, peripheral nerves, or less frequently, the optic nerve or orbital apex. Immunohistochemical analysis of biopsied tissue is required for the definitive diagnosis of GCT. Consideration of adjuvant therapies such as proton beam radiation therapy may be appropriate in cases of incomplete surgical resection of benign GCT. Proton beam radiation therapy can be an excellent therapeutic option for symptomatic relief and residual tumor size reduction with an acceptable toxicity profile.

Granulomatosis with polyangiitis presenting as recurrent, multifocal orbital myositis.

A 43-year-old woman was referred with a 10 month history of persistent pain in the left orbit. Two years prior, she experienced similar pain in the right orbit. Magnetic resonance imaging (MRI) at the time revealed an enlarged right medial rectus muscle. She was diagnosed with idiopathic orbital myositis and was successfully treated with oral corticosteroids. A year later, she developed symptoms in the left orbit with similar imaging findings. For ten months, she remained on high dose corticosteroids for presumed left medial rectus myositis before presenting to our service. Computed tomography (CT) imaging after corticosteroid taper revealed enlarged left medial rectus and left lateral rectus muscles. Orbital biopsy established a diagnosis of granulomatosis with polyangiitis (GPA), for which she was successfully treated with rituximab. This case underscores the importance of not only proceeding with biopsy in atypical cases of orbital myositis but to also taper steroids prior to biopsy.

Characterization of a Murine Model of Oxazolone-Induced Orbital Inflammation.

Purpose: Acute orbital inflammation can lead to irreversible vision loss in serious cases. Treatment thus far has been limited to systemic steroids or surgical decompression of the orbit. An animal model that mimics the characteristic features of acute orbital inflammation as found in thyroid eye disease can be used to explore novel treatment modalities. Methods: We developed a murine model of orbital inflammation by injecting oxazolone into the mouse orbit. The mice underwent magnetic resonance imaging (MRI) and were euthanized at various time points for histologic examination. Immunofluorescence studies of specific inflammatory cells and cytokine arrays were performed. Results: We found clinical and radiographic congruity between the murine model and human disease. After 72 hours, sensitized mice exhibited periorbital dermatitis and inflammation in the eyelids of the injected side. By one week, increased proptosis in the injected eye with significant eyelid edema was appreciated. By four weeks, inflammation and proptosis were decreased. At all three time points, the mice demonstrated exophthalmos and periorbital edema. Histopathologically, populations of inflammatory cells including T cells, macrophages, and neutrophils shared similarities with patient samples in thyroid eye disease. Proteomic changes in the levels of inflammatory and angiogenic markers correlated to the expected angiogenic, inflammatory, and fibrotic responses observed in patients with thyroid eye disease. Conclusions: A murine model of orbital inflammation created using oxazolone recapitulates some of the clinical features of thyroid eye disease and potentially other nonspecific orbital inflammation, typified by inflammatory cell infiltration, orbital tissue expansion and remodeling, and subsequent fibrosis. Translational Relevance: This animal model could serve as a viable platform with which to understand the underlying mechanisms of acute orbital inflammation and to investigate potential new, targeted treatments.

Complex Intratarsal Cyst with a Mixed Ciliated Respiratory-Type and Squamous Epithelial Lining.

A 55-year-old woman developed a painless, non-ulcerated left upper eyelid swelling over 6 months. Examination disclosed a fluctuant mass that permitted movement of the eyelid skin over the lesion. A full-thickness eyelid resection contained a well-encapsulated cyst with milky contents that was predominantly located in the tarsus. The cyst's lining was partially composed of segments of ciliated respiratory-type and non-keratinizing squamous epithelia. Immunohistochemical evaluation with cytokeratins 17, 18, and 19 confirmed the staining pattern of a respiratory-type epithelial cell (whether or not cilia were present in the non-squamous epithelial zones). In the squamous region, entirely different cytokeratin results were obtained vis-a-vis the non-squamous regions of the lining. The current lesion is interpreted as congenital and representing an in situ persistence of embryonic ciliated glandular epithelium that normally exists only transitorily. A more remote possibility is that the lesion was the result of ectopic epithelial cells displaced from an adjacent sinus. A recurrence has not developed during 6 months of follow-up.

Pyoderma gangrenosum of the eyelid associated with inflammatory bowel disease.

PURPOSE: Pyoderma gangrenosum (PG) of the eyelid can be difficult to diagnosis and may mimic other, more common pathologies, thereby delaying proper treatment and management. PG may be associated with systemic disorders that have significant comorbidities. OBSERVATIONS: The authors present two cases of pyoderma gangrenosum of the eyelid associated with inflammatory bowel disease. CONCLUSIONS AND IMPORTANCE: This case series highlights the importance of early recognition of eyelid pyoderma gangrenosum to avoid local and systemic comorbidities with timely and appropriate management.

Ocular Adnexal Adenomatoid Sebaceous Gland Hyperplasia: A Clinical and Immunopathologic Analysis in Relation to the Muir-Torre Syndrome.

The purpose of this study is to codify the microscopic diagnostic criteria for ocular adnexal brow and caruncular sebaceous gland hyperplasias (pseudoadenomatoid) that distinguish it from an adenoma. Clinical records and photographs were critically reviewed and microscopic slides were stained with hematoxylin and eosin and immunochemically stained for adipophilin, androgen receptor, p16, p53, a spectrum of cytokeratins, Ki-67 and mismatch repair nuclear protein expression for MLH1, MSH2, PMS2, and MSH6. The patients and their close relatives had no history of cancer. Cytokeratin 7 and especially cytokeratin 17 highlighted the presence of ducts in the hyperplastic lesion, which are not present in adenomas. p16 and p53 were negative and Ki-67 immunostaining demonstrated similar low proliferation indices for normal and hyperplastic glands. The mismatch repair nuclear protein expressions were preserved in both lesions. Histopathologic misdiagnosis of adenomatoid sebaceous gland hyperplasia as an adenoma can lead to the impression of an association with the Muir-Torre syndrome. Cytokeratins 7 and 17 immunostaining can be helpful in highlighting compressed ducts that in exuberant sebaceous gland hyperplasias may lead to a diagnosis of an adenoma (in which ducts are absent). Negative immunostaining for p16 rules out a possible etiologic role of human papillomavirus in hyperplasias and the negative p53 staining indicates the lesions are not truly neoplastic. The preservation of mismatch repair nuclear protein expression rules out the likelihood of the Muir-Torre syndrome. The current cases convincingly establish that sebaceous hyperplasia is not associated with the Muir-Torre syndrome by both clinical findings and immunohistochemical testing.Two yellow lesions, from the brow and caruncle, were examined microscopically and immunohistochemically to establish the diagnosis of sebaceous gland hyperplasia and to rule out the Muir-Torre syndrome.