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.

Periorbital necrotizing sweet syndrome: A report of two cases mimicking necrotizing soft tissue infections.

Purpose: Two cases are described of necrotizing Sweet syndrome (nSS), a rare variant of acute febrile neutrophilic dermatosis that mimics necrotizing soft tissue infections. Observation: A 74-year-old female with myelodysplastic syndrome (MDS) presented with isolated periorbital nSS that closely mimicked necrotizing fasciitis (NF); she displayed pathergy to debridement, was exquisitely responsive to corticosteroids, and underwent successful first-stage reconstruction of the eyelid with full-thickness skin grafting. A second 40-year-old female patient with relapsed acute myelogenous leukemia (AML) presented with multifocal nSS most prominently involving the eyelid. Positive herpes zoster virus (HSV) PCR and bacterial superinfection complicated the diagnosis. She improved with chemotherapy for AML and corticosteroid therapy. Conclusion: nSS is rare and a high level of clinical suspicion as well as an understanding of its distinguishing features is necessary to avoid undue morbidity. Identification of pathergy, histopathology, microbiology, and clinical context are critical to avoid misdiagnosis of infection.

Distinguishing spheno-orbital metastatic prostate cancer mimicking a meningioma using novel 18F-PSMA PET/CT imaging.

A 78-year-old man presented with acute-onset left temporal pain, eyelid swelling, and double vision. Computed tomography (CT) demonstrated a left sphenoid wing mass with extra-osseous intra-orbital and intracranial extension, thought to be a typical sphenoid wing meningioma by the primary team. The patient was admitted for an urgent craniotomy, which was planned for the following day. However, upon consultation with ophthalmic plastic surgery, concern was raised for an alternative diagnosis given the atypical timeline, inflammatory changes, and uncharacteristic imaging findings of mixed lytic and sclerotic bony changes without hyperostosis on CT and extensive peri-lesional dural thickening and enhancement on magnetic resonance imaging. A serum prostate-specific antigen was elevated to 206 ng/mL. Subsequent positron emission tomography (PET)/CT using 18F-fluorodeoxyglucose radiotracer was negative for metastatic disease. A prostate-specific membrane antigen (PSMA) PET/CT was then obtained and demonstrated extensive metastases. An orbital biopsy revealed poorly differentiated prostatic adenocarcinoma. The significant incongruence between the standard PET/CT and PSMA PET/CT highlights the value of this novel advanced radiographic modality in narrowing the differential diagnosis and determining the extent of disease. Findings of widespread metastasis on the PSMA PET/CT ultimately helped to avoid a large, morbid neurosurgical intervention in this patient, allowing for a minimally invasive orbital biopsy to characterize the tumor for therapeutic targeting.

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.

Cystic-Appearing Eyelid Lesion in a 62-Year-Old Man.

A 62-year-old male was referred for evaluation of a painless right lower-eyelid lesion noted during routine glaucoma follow-up. The lesion had been present for 3 years with slow, gradual enlargement. What would you do next?

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.

Antibiotic utilization in endoscopic dacryocystorhinostomy: a multi-institutional study and review of the literature.

PURPOSE: Utilization of antibiotics for endoscopic dacryocystorhinostomy (endo-DCR) is largely dependent on individual surgeon preference. This study aimed to investigate prescribing practices of pre-, peri-, and postoperative antibiotics and effects on postoperative infection rates in patients who underwent endo-DCR. METHODS: A retrospective chart review of institutional data at two academic centers of endo-DCR cases from 2015-2020 was performed. Postoperative infection rates for patients who received pre-, peri-, and postoperative antibiotics, individually or in combination, and those who did not, were compared via odds ratio and ANOVA linear regression. RESULTS: 331 endo-DCR cases were included; 22 cases (6.6%) had a postoperative infection. There was no significant difference in the infection rates between patients without an active preoperative dacryocystitis who received different permutations of peri- and postoperative antibiotics. Patients who received preoperative antibiotics within two weeks of surgery for preexisting acute dacryocystitis, but did not receive peri- or postoperative antibiotics, had a higher rate of postoperative infections (p = 008). CONCLUSIONS: Our data suggest antibiotics may be beneficial only when patients have a recent or active dacryocystitis prior to surgery. Otherwise, our data do not support the routine use of antibiotic prophylaxis in endo-DCR.

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.

Association of Somatic TET2 Mutations With Giant Cell Arteritis.

OBJECTIVE: Giant cell arteritis (GCA) is an age-related vasculitis. Prior studies have identified an association between GCA and hematologic malignancies (HMs). How the presence of somatic mutations that drive the development of HMs, or clonal hematopoiesis (CH), may influence clinical outcomes in GCA is not well understood. METHODS: To examine an association between CH and GCA, we analyzed sequenced exomes of 470,960 UK Biobank (UKB) participants for the presence of CH and used multivariable Cox regression. To examine the clinical phenotype of GCA in patients with and without somatic mutations across the spectrum of CH to HM, we performed targeted sequencing of blood samples and electronic health record review on 114 patients with GCA seen at our institution. We then examined associations between specific clonal mutations and GCA disease manifestations. RESULTS: UKB participants with CH had a 1.48-fold increased risk of incident GCA compared to UKB participants without CH. GCA risk was highest among individuals with cytopenia (hazard ratio [HR] 2.98, P = 0.00178) and with TET2 mutation (HR 2.02, P = 0.00116). Mutations were detected in 27.2% of our institutional GCA cohort, three of whom had HM at GCA diagnosis. TET2 mutations were associated with vision loss in patients with GCA (odds ratio 4.33, P = 0.047). CONCLUSIONS: CH increases risk for development of GCA in a genotype-specific manner, with the greatest risk being conferred by the presence of mutations in TET2. Somatic TET2 mutations likewise increase the risk of GCA-associated vision loss. Integration of somatic genetic testing in GCA diagnostics may be warranted in the future.

A Rapidly Expanding Hemorrhagic BRAF-Mutant Orbital Atypical Glomus Tumor.

A healthy 32-year-old woman presented with the acute onset of left sided eye pain, upper eyelid fullness, and binocular diplopia during light weightlifting. Examination elevated intraocular pressure, proptosis, upper eyelid ptosis, and motility deficits. CT demonstrated a well-circumscribed, homogeneous-appearing extraconal mass in the superior left orbit. The patient underwent an urgent orbitotomy with the excision of a hemorrhagic mass. Histopathology showed a glomus tumor with atypical features and hemorrhagic infarction, best classified as having uncertain malignant potential. A B-Raf proto-oncogene V600E mutation was detected with immunohistochemistry, which suggests a more aggressive tumor behavior yet presents an opportunity for targeted primary or adjunctive therapy. This is the first reported case of a B-Raf proto-oncogene-mutant atypical glomus tumor arising in the orbit.

Reduction in Extraocular Muscle Cross-sectional Area and Correlation With Extraocular Motility and Diplopia Following Teprotumumab for Thyroid Eye Disease.

PURPOSE: To quantify changes in extraocular muscle (EOM) cross-sectional areas (CSA) on orbital imaging in patients with thyroid eye disease before and after teprotumumab treatment, and assess for correlation with clinical outcomes. METHODS: This retrospective study included thyroid eye disease patients treated with teprotumumab who had pre- and post-treatment CT imaging. Reformatted oblique coronal images were created for each orbit in a plane perpendicular to the optic nerve. EOM CSA measurements were performed by 2 radiographic reviewers and averaged. Primary outcomes included change in ratio of total EOM to orbit CSA, and of each individual muscle group to orbit CSA, before and after treatment. Secondary outcomes included subanalysis based on age (≥40, <40 years) and Clinical Activity Score (CAS) (≥4, <4), and comparison with clinical outcomes including CAS, Hertel exophthalmometry, Gorman diplopia score, and extraocular motility. RESULTS: Forty-eight orbits of 24 patients (16 female, mean age 57.9 years) were included. There was a significant reduction in the total EOM to orbit CSA ratio ( p < 0.01) and for each individual rectus muscle to orbit CSA ratio ( p < 0.01 for all groups). Total EOM to orbit CSA ratios were reduced for 21 patients (87.5%); this was statistically significant in 13 patients (54.2%). There was significant improvement in CAS, proptosis, diplopia, and EOM motility ( p < 0.01 for all categories). There was a significant correlation between reduction of EOM CSA, and reduction of diplopia ( p < 0.01) and EOM motility ( p < 0.01). CONCLUSIONS: EOM CSA is significantly reduced following treatment with teprotumumab, and correlates with clinical findings including improvement in extraocular motility and diplopia.