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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Ophthalmic Plastic Surgery in Patients 100 Years and Older.

PURPOSE: The centenarian population is growing and ophthalmic plastic surgeons are providing care to an increasing number of elderly patients. Outcomes of centenarians have not been previously studied in the ophthalmic plastic surgery literature. The goal of the current review was to examine the baseline characteristics, surgical problems, and outcomes of this select group of patients. METHODS: A retrospective chart review was performed. Patients who underwent ophthalmic plastic surgery at age 100 or older between January 2000 and June 2016 by a member of the New England Oculoplastics Society were included in the study. RESULTS: Fifteen patients met inclusion criteria. The majority (66%) were female. More than half (60%) presented with a surgical problem of an urgent nature. Most disorders involved the lacrimal system or eyelids, and many were the result of trauma or infection. There were no cases of orbital tumor or thyroid eye disease. There were no surgical or anesthesia-related complications. Most patients (80%) had no documented history of dementia, and only 1 was diabetic. Notably, 33% of patients presented with no light perception vision in at least 1 eye. CONCLUSIONS: Ophthalmic plastic surgery can be performed safely in select patients 100 years of age and older. Formal prospective studies are needed to improve surgical care in this group.

Simultaneous ipsilateral transconjunctival repair of upper and lower eyelid retraction in thyroid-associated ophthalmopathy.

PURPOSE: To report a simple, highly effective technique of simultaneous transconjunctival repair of upper and lower eyelid retraction in patients with thyroid eye disease (TED). METHODS: A retrospective interventional case review was conducted on 22 eyes of 19 TED patients. The lower eyelid was recessed with placement of a tarsoconjunctival spacer graft harvested from the upper eyelid. The upper eyelid was then recessed through the conjunctival incision used to harvest the tarsal graft. A temporary tarsorrhaphy was placed for 5-7 days. The postoperative outcome was assessed by measuring the margin reflex distance of the upper eyelid (MRD1), inferior scleral show (ISS), and lagophthalmos. RESULTS: The absolute change in MRD1 ranged from 0 to 5 mm with an average of 1.86 ± 1.34 mm. The absolute change in ISS ranged from 0 to 2 mm with an average of 1.3 ± 0.49 mm. One patient had postoperative lagophthalmos and 17 of 19 had improvement in their ocular surface exposure symptoms. None of the patients' grafts were observed to undergo absorption during the postoperative course. CONCLUSIONS: This technique of harvesting a free tarsoconjunctival graft from the upper eyelid as a posterior spacer for the lower while simultaneously recessing the upper eyelid through the same incision is an effective and durable method of correcting eyelid retraction in TED.

A Lacrimal Gland Choristoma of the Lacrimal Sac.

Choristomatous lacrimal gland tissue has been detected in many different sites of the ocular adnexa, but has never before been convincingly described in the submucosa of the lacrimal sac. A 77-year-old woman with epiphora had a biopsy of the sac wall preformed during a dacryocystorhinostomy that contained such a lacrimal choristoma. Zymogen granules were found in the cytoplasm of the secretory cells with the periodic acid-Schiff reaction. No mucus-producing cells, as found in normal sac submucosal glands, were detected using the Alcian blue, mucicarmine, and Gomori methenamine silver histochemical stains. Gross cystic fluid protein-15 positivity was demonstrated immunohistochemically. The clinical implications of this choristoma are explored.

Orbital Complication Following Calcium Hydroxylapatite Filler Injection.

Cosmetic facial fillers have gained immense popularity in recent years. Although some patients opt to undergo an injection over surgery in light of the risks of an operation, there have been numerous reports of complications from these injections, including blindness. It is thought that filler particles can migrate within an artery and become emboli within small vessels. This case of focal orbital inflammation and dysmotility as a consequence of calcium hydroxylapatite filler injection in the face has not yet been documented in the literature.

Exophytic Osteochondroma of the Brow.

Most bony and cartilaginous lesions of the orbit and periorbital compartments are benign, grow endophytically, and are composed of dense lamellar bone (eburnated or ivory osteomas). An 87-year-old woman had a well-circumscribed, firm, round, and exophytic lesion of the brow region for at least 15 years. Excisional surgery disclosed an osteocartilaginous lesion with an enveloping pseudocapsule (periosteum/perichondrium) and a narrow stalk connecting it to the frontal bone. The periphery of the lesion displayed lamellar bone which appeared to be replacing a central cartilaginous zone. The adjacent deep preaponeurotic fat displayed nodules of collagen with myxoid change and occasional CD34 spindle cells suggestive of a spindle cell lipoma. Because of the osteochondroma's deep location in the preaponeurotic fat, the lesion differs from an osteoma cutis found in the dermis which fails to exhibit a cartilaginous component or a periosteum. Other clinically simulating lesions are described.

Clear-Cell (Reticulated) Transformation of Eyelid Eccrine Sweat Glands.

A 24-year-old man with a painful, recurrent left upper eyelid nodule underwent an excision. Histopathologic evaluation disclosed a granulomatous process, most likely in response to a ruptured epidermoid cyst. In the vicinity of the nodule were multiple eccrine sweat glands displaying a curious clear-cell appearance in the adlumenal cells, the first example of such a phenomenon in the eyelids. Alcian blue, periodic acid Schiff, and documented staining failed to disclose, respectively, any cytoplasmic mucosubstances, glycogen accumulation, or lipid in the adlumenal secretory cells. Cytokeratin 7 immunostained the adlumenal cells of the eccrine secretory coil, while cytokeratin 5/6 stained the ablumenal myoepithelial and ductular cells. Gross cystic disease fluid protein 15, normally demonstrable in the eccrine secretory cells, was not detectable. Clear-cell transformation should not be confused with syringoma of the lower eyelids, in which glycogen is responsible for the ablumenal clear-cell change.

Orbital Angiogenesis and Lymphangiogenesis in Thyroid Eye Disease: An Analysis of Vascular Growth Factors with Clinical Correlation.

PURPOSE: The human orbit is an environment that is vulnerable to inflammation and edema in the setting of autoimmune thyroid disease. Our study investigated the tenet that orbital adipose tissue lacks lymphatic vessels and analyzed the clinicopathologic differences between patients with acute and chronic thyroid eye disease (TED). The underlying molecular mediators of blood and lymphatic vessel formation within the orbital fat also were evaluated. DESIGN: Retrospective cohort study. PARTICIPANTS: The study included fat specimens from 26 orbits of 15 patients with TED undergoing orbital decompression. Orbital fat specimens from patients without TED as well as cadaveric orbital fat served as controls. METHODS: Tissue specimens were processed as formalin-fixed, paraffin-embedded sections or frozen cryosections for immunohistochemistry. Total RNA was extracted and analyzed via quantitative (real-time) reverse-transcription polymerase chain reaction. Clinicopathologic correlation was made by determining the clinical activity score (CAS) of each patient with TED. MAIN OUTCOME MEASURES: Samples were examined for vascular and lymphatic markers including podoplanin, lymphatic vessel endothelial hyaluronan receptor 1 (LYVE-1), and cluster of differentiation 31 (CD31) by immunohistochemistry, as well as for mRNA levels of vascular endothelial growth factor (VEGF), VEGF receptors, semaphorin 3F, neuropilin 1, neuropilin 2, podoplanin, and LYVE-1 by quantitative (real-time) reverse-transcription polymerase chain reaction. RESULTS: Clinicopathologic correlation revealed increased staining of CD31-positive blood vessels in patients with acute TED with a CAS more than 4, as well as rare staining of podoplanin-positive lymphatic vessels within acutely inflamed orbital fat tissue. Additionally, quantitative (real-time) reverse-transcription polymerase chain reaction analysis demonstrated increased expression of VEGF receptor (VEGFR) 2 as well as VEGF signaling molecules VEGF-A, VEGF-C, and VEGF-D. CONCLUSIONS: In acute TED, compared with chronic TED and control orbital fat, there is increased blood vessel density, suggesting neovascularization and rare lymphatic vessels suggestive of limited lymphangiogenesis. This proangiogenic and prolymphangiogenic microenvironment is likely the result of the increased expression of VEGFR-2, VEGF-A, VEGF-C, and VEGF-D. These findings imply that orbital edema in acute TED may be mediated, in part, by both the formation of new, immature blood vessels and the formation of lymphatic capillaries that are functionally incapable of draining interstitial fluid.