Search

Purpose: This study aimed to determine risk factors, and describe management and outcomes in patients who developed orbital cellulitis secondary to dacryocystitis., Methods: Multicenter retrospective case series with 18 patients and review of published cases., Results: The mean age was 62 years, 56% were female and 50% had recurrent dacryocystitis. Visual acuity was reduced in the affected eye with a mean of 0.27 logMAR (Snellen 20/40) which improved to 0.15 logMAR (Snellen 20/30) at final follow up. Two cases (12%) had dacryoliths and 1 patient had sarcoidosis within the lacrimal sac. Gram-positive bacteria were identified in 73% (11/15), gram-negative bacteria in 13% (2/15), and mixed infection in 13% (2/15), respectively. Cases who had dacryocystorhinostomy as definitive treatment, either acutely (n = 3) or electively (n = 10) had full resolution. Transcutaneous drainage of the medial wall abscess in 10 patients helped resolve acute cellulitis. Four patients declined dacryocystorhinostomy after transcutaneous drainage; 2 had repeated dacryocystitis and orbital cellulitis, while 2 had no further infective episodes. One immunosuppressed patient had rapid progression to non-perception-of-light vision due to fungal invasion. Forty-six published cases reported up to 28% permanent loss of vision (perception-of-light and non-perception-of-light). Dacryoliths were discovered in 17% of published cases., Conclusions: Orbital cellulitis complicating dacryocystitis appears to be related to recurrent dacryocystitis and possibly the presence of dacryoliths. Immunosuppression is identified as a poor prognostic factor in this series. While transcutaneous drainage works well as a temporizing measure, dacryocystorhinostomy either done acutely or deferred until resolution of orbital cellulitis is required for definitive cure., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2024 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: To characterise patterns of disease recurrence in idiopathic orbital myositis (IOM)., Methods: Multi-centre retrospective longitudinal study of IOM patients. Serial imaging was also analysed. Patients with incomplete clinical records and specific orbital myositis (e.g. thyroid-associated ophthalmopathy) were excluded., Results: Thirty-three patients (Female: 18, mean age: 40.8 ± 16.8-years-old) presenting between 2001 and 2023. Twelve (36.4%) patients had disease recurrence. There was no difference between age or sex predilection of patients with and without recurrence (P = 0.107 and 0.469, respectively). There was no association between patients presenting with multiple EOM involvement, unilateral disease, anterior tendon sparing or lacrimal gland involvement with recurrence (P = 0.328, 1.0, 0.630 and 0.686, respectively). Recurrence with single EOM involvement occurred in eight (66.7%) patients, and ten (83.3%) patients had recurrence involving different EOM(s) than on initial presentation. Seven (58.3%) patients had metachronous contralateral orbital involvement and one (8.3%) had simultaneous bilateral involvement. There was no association between age, sex, patients presenting initially with single EOM or lacrimal gland involvement with the development of contralateral orbital myositis (i.e. metachronous bilateral disease) (P = 0.777, 0.491, 0.109, and 0.236, respectively). Of the patients with a single acute episode, two (9.5%) patients experienced residual ocular symptoms, compared to four (33.3%) patients with recurrent disease (P = 0.159)., Conclusion: This study summarises the patterns of recurrence in IOM. Recurrence was not associated with age, sex, multiple EOM involvement, bilateral disease, tendon-sparing or lacrimal gland involvement. Recurrence was observed in a heterogenous sample of patients and may frequently develop contralateral disease or involve different EOMs (i.e. 'migratory' disease)., Competing Interests: Declarations. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the Central Adelaide Local Health Network and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Conflicts of interest: All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Idiopathic apical orbital inflammation (AOI) is used to describe inflammation involving the posterior third of the orbit where no specific cause can be identified. It is a rare entity in which the presentation can vary widely. We aim to describe a case series of patients with idiopathic AOI and their clinicoradiological features and visual outcomes., Method: Retrospective multi-centre case series involving patients with idiopathic AOI., Results: Seven patients were included. The mean age was 50.3 ± 18.4 years (range: 31-84 years). The left eye was involved in the majority of patients (4, 57.1%), with the most common presenting clinical symptoms and signs being limitation of extraocular movements (6, 85.7%), periorbital pain (4, 57.1%), and blurred vision (4, 57.1%). Optic neuropathy was present in 3 (42.9%) patients. Three patients (42.9%) underwent an orbital biopsy, which were all consistent with nonspecific inflammation. Medical treatment was used for all patients in the form of oral steroids (5, 71.4%) or nonsteroidal anti-inflammatories (1, 14.3%). Two (28.6%) patients had additional immunosuppression. At last follow-up, 2 (28.6%) patients had achieved complete resolution of all of their symptoms, 2 (28.6%) patients had significant clinical improvement with mild residual disease, 2 (28.6%) had stable disease, and 1 (28.6%) was lost to follow-up., Conclusion: Idiopathic AOI is a rare condition that can present with a wide variety of symptoms and be potentially blinding. Patients responded well to oral corticosteroids, but biopsy and additional immunosuppressive agents should be considered in those with recurrent, poorly responsive, or atypical disease., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Endovascular embolization of carotid-cavernous sinus dural arteriovenous fistulas (CCFs) is most commonly performed via a transfemoral-transvenous approach. Surgical cut-down of the superior ophthalmic vein is an alternative, well-described route. When these prove inaccessible, a transorbital approach can be used to reach the fistula., Methods: We describe the recent experience- including indications, surgical technique, radiological findings and post-operative outcomes- in Melbourne of a series of patients in whom a percutaneous, transorbital direct puncture of the cavernous sinus enabled successful embolization of dural arteriovenous fistulas., Results: Each of three patients achieved successful embolization of their CCFs via a transorbital puncture. Post-operatively, all patients experienced symptomatic relief with complete resolution of clinical signs secondary to their CCFs., Conclusion: When angioarchitecture does not allow endovascular access, transorbital puncture of carotid-cavernous sinus dural arteriovenous fistulas can be a safe and effective technique. This report supports its success and low complication rate., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.This article contains no identifiable patient data. Informed consent has previously been obtained for academic use of images.

Purpose: Blepharocheilodontic (BCD) syndrome is a rare condition with eyelid ectropion, euryblepharon, lagophthalmos, congenital cleft lip/palate, and oligodontia. BCD syndrome is an autosomal dominant inherited disorder and has multiple associations with systemic diseases. We present three new cases of BCD syndrome and a literature review of the periocular manifestations of BCD and their management., Methods: A multi-institutional retrospective case series of patients with BCD syndrome. Clinical characteristics, imaging findings, surgical management, and outcomes were analysed. Further, a comprehensive review of the literature identified all previously published cases of BCD syndrome., Results: Three cases of BCD syndrome in children with autosomal dominant inheritance were included. Periocular manifestations in BCD syndrome include lower lid ectropion, euryblepharon, and lagophthalmos. Systemic manifestations including cleft lip or palate and dental abnormalities were also observed. Multiple surgical procedures including lateral canthoplasty, tarsorrhaphy, and midface augmentation may be necessary for correction of eyelid malposition and achieving cosmetic and functional improvements., Conclusions: BCD syndrome presents with a spectrum of periocular manifestations requiring multidisciplinary management. Children that present with cleft lip and palate, dental, and eyelid abnormalities should be suspected to have BCD syndrome. Surgical management of the eyelid in BCD remains challenging. Ophthalmologists should be aware of BCD syndrome and its systemic associations.

Purpose: Juvenile xanthogranuloma (JXG) is a subtype of histiocytosis characterised histologically by foamy non-Langerhan cells with Touton giant cells. It typically manifests as a single self-limiting cutaneous nodule in the pediatric population. Orbital JXG is extremely rare, and its clinical course and management are not well understood or defined. Herein we present 3 cases of orbital JXG and provide a detailed literature review., Methods: Review of 3 cases with orbital JXG and literature review of all published cases., Results: Three presented cases demonstrate the heterogeneous clinical course of orbital JXG. Although centred around the use of steroids, there is neither robust evidence nor consensus on its management. The wider JXG literature is currently concentrated around the classification of JXG with respect to histiocytosis, especially the exclusion of extracutaneous JXG as separate diseases. This separation is based on clinical, histopathological, and molecular findings. It is unclear where orbital JXG best fits in this emerging classification of JXG., Conclusion: Our review of the cases and literature on orbital JXG show that it may manifest with variable clinical course and its molecular pathogenic mechanism may be different to that of the cutaneous JXG., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2024 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: To characterize the qualitative and quantitative features of idiopathic orbital myositis (IOM) on MRI., Methods: This was a multicenter retrospective study of patients with active IOM with MRI. Patients with incomplete clinical records, poor-quality or interval scans without active myositis, and specific orbital myositis (i.e., orbital myositis secondary to an identified condition) were excluded. An enlargement ratio was calculated by dividing the diameters of the affected extraocular muscle (EOM) by the contralateral unaffected EOM., Results: Twenty-four patients (mean age: 44.4 ± 17.8 years-old, male: 11) between 2011 and 2022 were included. One case (4.2%) was pediatric (17 years old), and 6 cases presented with recurrence. Active IOM was characterized by fusiform EOM enlargement, high T2 signal, and contrast enhancement. Average maximal EOM diameters ranged from 4.6 to 7.7 mm (enlargement ratio: 1.4-2.2). Eighteen (75%) patients had single EOM involvement, most commonly the medial rectus. Other ipsilateral structures affected included focal orbital fat (16/24, 66.7%) and lacrimal gland (8/24, 33.3%). Contralateral changes in the EOM and/or lacrimal gland were observed in 7 patients (29.2%). Patients presenting with recurrence were likely to develop ongoing recurrent episodes ( p = 0.003)., Conclusions: Various radiological patterns of involvement described including EOM enlargement, contrast enhancement, abnormal signal, and involvement of other orbital structures are indicative of active IOM. IOM remains a heterogeneous spectrum of acute and chronic clinico-radiological presentations. Inflammation may involve other ipsilateral or contralateral orbital structures or may be bilateral despite presenting clinically as unilateral disease. Quantitative measurements may have utility in differentiating IOM from other causes of orbital myositis., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2024 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Background/objectives: To determine risk factors and treatment outcomes in dysthyroid optic neuropathy (DON) at a single tertiary ophthalmic centre., Methods: Retrospective audit of DON patients who have received intravenous methylprednisolone (IVMP) therapy at Royal Victorian Eye and Ear Hospital, Melbourne, Australia from July 2015 to October 2021., Results: Study included 24 patients (58% female) with an average age of 59.8 ± 14.7 years at DON diagnosis. Majority (92%) had Graves' hyperthyroidism and 77% had a smoking history. At diagnosis, average visual acuity (VA) of worse eye was LogMAR 0.46, and 48% had relative afferent pupillary defect. Proptosis (89%) and diplopia (73%) were most commonly present at diagnosis. 78% showed predominantly extra-ocular muscle enlargement, and apical crowding (52%) on radiology. 38% (n = 9/24) responded to IVMP alone, 58% (n = 14/24) progressed to surgical orbital decompression. The average total cumulative dose of IVMP during DON treatment was 6.8 ± 1.9 g. 29% required further treatment after IVMP and surgical decompression, 4 (17%) had additional radiotherapy, and three (13%) required immuno-modulatory therapy. Average final VA was LogMAR 0.207, with all patients having inactive TED at final follow-up (mean 1.7 years). In refractory DON cases, 71% retained VA ≥ 6/9 and 48% had DON reversal., Conclusions: DON patients typically present in late 50s, with a smoking history and predominant extra-ocular muscle enlargement. High-dose IVMP fully resolved DON in only 38%. A considerable proportion required urgent orbital decompression. Most patients retained good vision at final follow-up., (© 2023. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Purpose: To determine the interrater reliability (IRR) of thyroid eye disease (TED) photographic assessment using the VISA classification. To assess whether a VISA grading atlas improves ophthalmology trainees' performance in photographic assessment of TED., Methods: A prospective, partially randomized, international study conducted from September 2021 to May 2022. Online study invitation was emailed to a volunteer sample group of 68 ophthalmology college accredited consultants and trainees, and 6 were excluded from the study. Participants were asked to score 10 patient photographs of TED using only the inflammation and motility restriction components of the VISA classification. IRR was compared between groups of practitioners by their level of experience. A clinical activity grading atlas was randomized to 50% of the ophthalmology trainees., Results: Overall rater ICC was 0.96 for inflammation and 0.99 for motility restriction. No statistically significant difference in IRR between rater groups was identified. Trainees with a grading atlas had the highest IRR for inflammation (ICC = 0.95). Each subcomponent of the inflammation and motility restriction components of VISA classification had an ICC considered good to excellent. The mean overall rater score was 4.6/9 for inflammation and 3.5/12 for motility restriction. For motility restriction there was a reduced mean score variance among all raters when scoring photographs with more severe motility restriction., Conclusion: IRR using the inflammation and motility restriction components of the VISA classification was excellent. A VISA grading atlas improved trainee performance in grading inflammation., (© 2024. The Author(s).)

Lemierre's syndrome is a triad consisting of oropharyngeal infection, internal jugular vein thrombophlebitis, and systemic embolisation typically involving lung and brain. Orbital involvement in this life-threatening condition is rare but potentially blinding and may be an indicator of intracranial involvement. We describe a case of odontogenic Lemierre's syndrome complicated by extensive orbital and intracranial septic venous thrombosis, with optic and cranial neuropathy resulting in monocular blindness and ophthalmoplegia. A multidisciplinary approach with abscess drainage, antibiotic and antithrombotic therapy, and close radiological monitoring was critical for preserving contralateral vision and neurological function.

Periocular haemorrhage without a preceding history of trauma, and in the absence of vascular malformations is rare. While acute proptosis is well described in the setting of orbital pathology, accompanying periocular haemorrhage has been rarely reported. We describe three cases with these concomitant presenting signs in orbital malignancies - metastatic small cell bladder carcinoma, haemangiopericytoma (solitary fibrous tumour) and myeloma. Clinical photographs and radiology are presented with review of the current literature. All cases had an associated rapid onset of severe proptosis and co-existing periocular bruising on the same side. The presence of ecchymosis of the eyelids in addition to proptosis without a history of trauma warrants thorough investigation to rule out underlying potential sight and life threatening illness.

Purpose: The paramedian forehead flap (PMFF) is a reconstructive option for large eyelid defects and orbital exenterations. We report a series of cases where PMFF reconstruction was carried out at various institutions in Australia., Methods: This study was a multi-centre, retrospective, non-comparative case series investigating the clinical outcomes of the PMFF for reconstructing periocular defects and orbital exenterations., Results: This case series describes twenty-seven patients (Female = 15, Male = 12), operated between 1991 to 2019, with a median age of 81 years (range: 45-93 years). Defect locations involved combinations of the medial canthus (16/27, 59.3%), upper eyelids (7/27, 25.9%), lower eyelid (4/27, 14.8%), both upper and lower eyelids (5/27, 18.5%), and orbital (7/27, 25.9%). There were no cases of flap necrosis. Minor post-operative complications were observed in ten patients with the most common being lagophthalmos. Median duration of follow-up was 17months (Range: 2months- 23years)., Conclusions: The PMFF is a versatile reconstructive tool for a range of periocular defects and orbital exenterations with minor post-operative complications., (© 2022. The Author(s).)

Objectives: To describe the features, management approaches, and outcomes of orbito-cranial schwannomas., Methods: Retrospective review of ten patients with orbito-cranial schwannomas managed in six orbital services over 22 years. Data collected included demographics, presenting features, neuroimaging characteristics, histology, management approach, complications, and outcomes., Results: Mean age of the patients was 41.4 ± 19.9 years, and 6 (60%) were females. The majority presented with proptosis (90%), limited extraocular motility (80%), eyelid swelling (60%), and optic neuropathy (60%). Most lesions (80%) involved the entire anterior-posterior span of the orbit, with both intra- and extraconal involvement. All tumours involved the orbital apex, the superior orbital fissure, and extended at least to the cavernous sinus. Surgical resection was performed for all. Seven (70%) of the tumours were completely or subtotally resected combining an intracapsular approach by an orbital-neurosurgical collaboration, with no recurrence on postoperative follow-up (6-186 months). Three underwent tumour debulking. Of these, two remained stable on follow-up (6-34 months) and one showed progression of the residual tumour over 9 years (cellular schwannoma on histology) necessitating stereotactic radiotherapy (SRT) for local control. Adjuncts to the orbito-cranial resection included perioperative frozen section (n = 5), endoscopic transorbital approach (n = 2), and image-guided navigation (n = 1). Post-surgical adjuvant SRT was used in three subjects., Conclusions: These results highlight the possibility of successful surgical control in complex orbito-cranial schwannomas. A combined neurosurgical/orbital approach with consideration of an intracapsular resection is recommended. Recurrence may not occur with subtotal excision and observation may be reasonable. Adjunctive SRT for progression or residual tumour can be considered., (© 2021. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

The authors describe a rare case of primary extradural ectopic meningioma of the orbit in a 13-year-old female managed with surgical excision, adding to the very limited literature of this diagnosis in children. This is the second case to show a radiological abnormality in the gyrus rectus and olfactory bulb; however, in our case, there was no radiological evidence of connection seen., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2022 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: To report a case of paracentral acute middle maculopathy in a patient with high-flow carotid cavernous fistula., Methods: A case report of a 53-year-old male patient who sustained an iatrogenic high-flow carotid cavernous fistula and secondary paracentral acute middle maculopathy., Results: At review 1-week postembolization of the carotid cavernous fistula, there was no significant improvement in visual acuity, tests of optic nerve function, external ophthalmoplegia, and ptosis. Spectral domain optical coherence tomography was performed, which revealed hyperreflectivity of the parafoveal plexiform layers of the right eye with ill-defined margins straddling the inner nuclear layer., Conclusion: We suggest that spectral domain optical coherence tomography be performed in cases of high-flow direct carotid cavernous fistula where the best-corrected visual acuity is reduced out of keeping with other ophthalmic manifestations.

We present a case of orbital giant cell myositis (OGCM), presenting with bilateral subacute progressive ophthalmoplegia and optic nerve dysfunction. An early extraocular muscle biopsy confirmed the diagnosis and guided appropriate management. Comprehensive investigation excluded any underlying systemic disease, including myocarditis. Twenty two months after presentation, the patient remains well on azathioprine with complete resolution of orbital signs.

Lymphoma is the commonest orbital malignancy. The typical presentation is proptosis or swelling, which warrants imaging and confirmation by tissue biopsy. Enophthalmos is a much rarer clinical sign and if bilateral and symmetrical can often present late. We describe a patient who presented with bilateral enophthalmos and symptomatic, secondary entropion due to bilateral non-Hodgkin's lymphoma in which orbital fat was replaced by a monoclonal proliferation of small B cells. Low-dose orbital radiotherapy and entropion surgery relieved the patient's symptoms., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2022 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: Orbital amyloidosis of the extraocular muscles (EOMs) is a rare condition, and its clinicoradiological features are not well elucidated. This study describes the characteristic clinical signs, MRI features, and potential treatment options., Methods: Retrospective multicenter case series and literature review of EOM amyloidosis., Results: Five cases were identified for inclusion. Common clinical findings were diplopia, ophthalmoplegia, and proptosis. Systemic amyloidosis was more likely to present with multiple muscle involvement, but no particular pattern was observed with localized disease. On MRI, amyloid deposition was characterized as a heterogeneous intramuscular mass with T2 hypointensity and post contrast enhancement. Management is dependent on the extent of disease and functional impairment; options include surgical debulking and radiation therapy., Conclusion: EOM amyloidosis is uncommon. The combination of clinical and radiologic findings described in this study should lead to its clinical suspicion., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2021 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: We present the clinico-radiological findings of neuroendocrine tumour metastases to the orbit., Methods: This was a multicentre, retrospective study of patients with neuroendocrine tumour metastases to the orbit. Data was collected from medical records across five different sites within Australia and the United Kingdom., Results: Nine patients (eleven lesions) were identified. The most common presenting complaint was diplopia (5/9, 56%). Disease occurred bilaterally in two patients. Seven patients (78%) had extraocular muscle involvement. The lateral recti (4/9, 44%) and superior recti (2/9, 22%) were the most commonly affected. Ocular presentation preceded primary tumour diagnosis in three patients (33%). On orbital imaging, metastases were most commonly reported as well circumscribed, ovoid or round, heterogeneous, contrast-enhancing masses. Features of intralesional haemorrhage and bony invasion are uncommonly reported., Conclusions: Neuroendocrine tumour metastasis to the orbit is uncommon. Metastases have a propensity for the extraocular muscles, commonly presenting as heterogeneous, well circumscribed, contrast-enhancing lesions on neuroimaging. New ocular symptoms, a history of neuroendocrine tumours, and these radiological findings, should lead to high clinical suspicion of metastatic disease. Atypical findings warrant biopsy to exclude other causes of orbital lesions.

Purpose: In assessing epiphora, dacryocystography (DCG) is often performed to determine the presence of any structural anomaly of the nasolacrimal drainage apparatus. We describe an anatomical variation of the nasolacrimal duct, termed high sac-duct junction (HSDJ) morphology, that is seen on DCG, which could lead to more difficult, and possibly unsuccessful, intubation of the nasolacrimal duct (NLD)., Methods: This was a multi-center, retrospective, observational case series. Seven hundred and thirty-four DCGs were included in this study, of which 45 were pediatric images. DCG images underwent a blinded review by an oculoplastic surgeon for the presence of HSDJ morphology. The direct extension of the NLD from the inferior border of the lacrimal sac is commonly regarded as a normal morphology. HSDJ was defined as NLD originating from the inferior aspect of the medial wall of the lacrimal sac., Results: HSDJ was seen in 28/689 (4.1%) adult scans and 7/45 (15.6%) pediatric scans. In total, there were 35/734 (4.8%) DCGs demonstrating lacrimal sacs with HSDJ., Conclusions: We report the prevalence of an anatomical variant of the lacrimal sac and NLD, observed on DCG, in a population of patients with epiphora, where the NLD originates from the inferior aspect of the medial wall of the lacrimal sac. Knowledge of this anatomic variant may have management implications for patients with epiphora as it may make nasolacrimal intubation more technically difficult. Further studies are needed to correlate this anatomic variation with symptoms and management outcomes.

Purpose: To review the imaging features of the broad range of nonmeningioma lesions of the greater wing of the sphenoid (GWS) bone and adjacent orbit to assist clinicians in differentiating these lesions from each other and from the most common lesion of the GWS and adjacent orbit, meningioma., Methods: We reviewed 32 cases of spheno-orbital lesions involving the GWS from our own practice, as well as 109 published cases (total 141), with emphasis on available imaging features on computerized tomography (CT) and MRI. Features that might assist in differentiating meningioma from its mimics were analyzed for each lesion, including the presence of an osteoblastic or hyperostotic response, bone erosion or osteolysis, homogeneous hypo- or hyperintensity on T2-weighted MRI, leptomeningeal involvement, and the absence of a "dural tail" on contrast-enhanced MRI. The clinical and imaging features were also briefly summarized for each diagnostic group., Results: The largest diagnostic group was metastasis (67 cases, 47.5%). The most useful imaging features that helped differentiate meningioma from its mimics were the presence of bone erosion and the absence of a "dural tail." Other features were helpful in a small minority of cases only. Metastatic prostate cancer was the largest single group (21 cases), and 18 (85.7%) of these were osteoblastic and most closely mimicked meningioma. Prostate cancer patients were generally older than males with GWS meningioma. Almost all other (44/46, or 95.7%) metastatic lesions showed evidence of bone erosion. Almost half (30 of 61, 49.2%) of patients with metastasis presented without a known diagnosis of malignancy. Among children 16 years of age and less, Langerhans cell histiocytosis (10 cases), dermoid cyst (5), and Ewing's sarcoma (5) were the most common diagnoses., Conclusions: A combination of a careful history and both CT and MRI gives information, which can best guide the management of patients with spheno-orbital lesions. Metastatic prostate cancer to the GWS most closely mimics GWS meningioma but can in most cases be differentiated on clinical and imaging features. Older males with hyperostotic lesions of the GWS should be investigated for prostate cancer. Other metastatic lesions and primary tumors of the GWS, as well as benign and structural lesions can readily be differentiated from meningioma on clinical and imaging features., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2021 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an inflammatory neuropathy, which commonly causes peripheral neuropathy. It has rarely been associated with cranial nerve hypertrophy and neuro-ophthalmic manifestations. Proptosis secondary to cranial nerve hypertrophy has been reported in association with CIDP. The authors present a case of a 67-year-old man with CIDP who presented with bilateral proptosis, strabismus, and episodes of globe subluxation. The proptosis was mainly attributed to significant enlargement of the extraocular muscles, in addition to bilateral enlargement of the trigeminal nerves. There has been no published case of CIDP with associated enlargement of extraocular muscles without a history of underlying hyperthyroidism, inflammation, or malignancy. This may represent a new clinical finding in CIDP and adds to the limited literature on the neuro-ophthalmic and orbital associations of CIDP. The proptosis was managed with an uncomplicated bilateral orbital decompression., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2021 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Competing Interests: The authors have no financial or conflicts of interest to disclose.

Conjunctival orbital cysts are rare; they are typically either conjunctival dermoid or conjunctival epithelial cysts - congenital or acquired (inclusion). We describe the case of a 15-month-old girl presenting with strabismus and proptosis who had a retrobulbar intraconal cystic lesion displacing the optic nerve, with an adjacent middle cranial fossa anomaly. Aspiration of the orbital cyst tested positive for asialotransferrin, raising the suspicion of a direct communication with cerebrospinal fluid (CSF). Subsequent fine cut CT scanning disproved any connection with the intracranial space, and the cyst was excised complete and intact. Histopathology showed a conjunctival epithelial cyst. To our knowledge, this is the first case report in the literature of an asialotransferrin positive pediatric orbital conjunctival epithelial cyst. It is of clinical relevance as it explores the possibility of either a false positive asialotransferrin or potentially a prior developmental communication with the subarachnoid space. These two diagnostic possibilities are discussed.

Multiple myeloma (MM) is the second most prevalent hematologic malignancy after non-Hodgkin lymphoma and is currently considered incurable. Clinical ophthalmic manifestations of MM are rare but at the same time diverse. Ocular surface manifestations of multiple myeloma are uncommon. Conjunctival 'salmon patch' is a typical ocular surface ophthalmological sign with a distinct set of differential diagnoses, including most often ocular adnexal lymphoma. This case report presents a 33-year-old female with a relapse of MM manifesting as a conjunctival 'salmon patch'. The patient initially responded well to medical management including high dose melphalan supported by a third autologous stem cell transplantation (ASCT) and did not require further surgical excision of the ocular lesion. It is suggested that MM should be included in the differential diagnosis of 'salmon patch' conjunctival lesions.

Purpose: To investigate the efficacy of Permacol™, a decellularized porcine dermal-derived membrane, as a spacer in the management of lower eyelid retraction. The efficacy of sizing and insertion was investigated, as well as complications. The literature was also reviewed to compare this material with other porcine-derived grafts in use for the management of lower eyelid retraction., Methods: This was a retrospective case series observing all patients who received lower eyelid Permacol implants by the two senior authors (AAM, TGH) for the management of lower eyelid retraction. Patient demographics, indications for surgery, graft size, degree of postoperative lid advancement, and complications were reviewed., Results: A total of 12 patients (16 eyelids) received Permacol implants for correction of lower eyelid retraction during the study period of 18 months (January 2015 to July 2017). Ten procedures were related to thyroid eye disease, 3 for reconstruction, 2 postcosmetic lower lid blepharoplasty, and one acquired anophthalmic socket. The average preoperative inferior scleral show (ISS) was 1.74 mm, and the average postoperative ISS was 0.82 mm. There was a mean lower eyelid elevation of 0.91 mm (p < 0.005, Wilcoxon signed rank test) and mean ratio of graft height:preoperative ISS was 3.8:1 over a median of 8 months follow-up., Conclusions: Permacol is a safe and effective alternative to autologous tissues for use as a spacer in patients with lower eyelid retraction of varying etiologies. It does undergo some resorption with time, however this can be predicted and incorporated into surgical planning; we recommend an implant height:ISS ratio of 4:1.

Purpose: To describe the clinicopathological features and report the outcomes of treatment in lymphoma involving the extraocular muscles (EOM), the largest reported case-series., Methods: A retrospective case series of patients with lymphoma involving the EOM from a single tertiary referral orbital center, between March 1992 and March 2018. Patients with other histopathologic diagnoses or who did not have an EOM biopsy were excluded. The main outcome measures were histologic evaluation and clinical follow-up including tumor response, recurrence, and survival., Results: Twenty-five patients were included, 16 female; 9 male; median age 64.7 years (range 33.8-92.6 years). Unilateral involvement was present in 23 cases (92%). Lymphoma was found to be primary in 15 patients (60%), and any EOM could be affected by disease. Fourteen patients (56%) displayed impaired duction in the direction of the affected muscle. The commonest histologic type was extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in 16 cases (64%) followed by follicular lymphoma in 3 cases (12%), diffuse large B-cell lymphoma in 2 cases (8%), gamma delta T-cell lymphoma in 2 cases (8%), small lymphocytic lymphom and lymphoplasmacytic lymphoma in 1 case each (4%). All 4 patients with high-grade lymphomas (diffuse large B-cell or T cell lymphoma) were found to have systemic disease. Patients were treated with combinations of radiotherapy, chemotherapy, or immunotherapy, with low toxicity. Two patients developed treatment-related complications. With a median follow-up of 26 months (range 3-108 months), there was only 1 recurrence, which was successfully salvaged with Rituximab, and no deaths due to lymphoma., Conclusions: Lymphoma of the EOM is a rare tumor with good response to treatment, few treatment-related complications and low risk of recurrence or mortality.A retrospective review of 25 patients with lymphoma of the extraocular muscles demonstrates excellent prognosis with a high rate of local remission (96%), 2 treatment-related complications, one recurrence, and no disease-related deaths.

A 78-year-old Caucasian woman presented with pain in her right and only eye that was worse on abduction. Her history was significant for a choroidal melanoma affecting her left eye for which she underwent an orbital exenteration 12 years previously. Computed tomography and magnetic resonance imaging of the right orbit identified a mass lesion affecting the medial rectus, suspicious for metastatic melanoma. A histopathological diagnosis of metastatic melanoma was subsequently made following biopsy of the right medial rectus.

Background: Pediatric acquired lacrimal drainage apparatus (LDA) obstruction is much rarer than congenital LDA obstruction. Its etiology and treatment outcomes have not been well defined. Our aim was to examine the etiology and management of acquired LDA obstruction in children and report the results of its management., Methods: We retrospectively reviewed the medical records of patients ≤16 years of age who presented with acquired epiphora to investigate the causes and describe the management of this condition., Results: A total of 31 patients (16 males [52%]) were included. Mean age of patients was 10.9 years (range, 3-16). The main causes of acquired LDA obstruction were keratoconjunctivitis, herpes simplex blepharokeratoconjunctivitis, and trauma. Silicone tube intubation, endonasal or external dacryocystorhinostomy, and the insertion of lacrimal bypass tubes were the mainstays of management., Conclusions: It is important to suspect acquired LDA obstruction in children with acquired, persistent epiphora. Surgical management is similar to that in adults., (Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. All rights reserved.)

Purpose: The authors present the largest series of patients to date of spontaneous hemorrhage in relation to extraocular muscles (EOMs)., Methods: Observational retrospective case series. Institutional review board approval was obtained., Results: Eighteen patients with a mean age of 71 years presented with 20 episodes of spontaneous orbital hemorrhage closely related to an EOM. Most patients woke with unilateral proptosis, pain, and diplopia. Vision was impaired in 25%. Imaging identified a characteristic well-circumscribed hematoma arising within the muscle sheath or intermuscular septum. Three episodes required surgical drainage. All patients had good recovery of vision., Discussion: The authors describe a distinct clinical entity of idiopathic hemorrhages related to EOMs. No patient had an underlying vascular malformation or other lesion. The authors demonstrate that a proportion of these patients have vascular risk factors, namely, hypertension, hyperlipidemia, and antiplatelet use. This study suggests that inferior rectus is the most commonly affected EOM and shows that it is the muscle sheath or intermuscular septum of inferior rectus that is involved, rather than the muscle belly. Most patients can be managed conservatively with good visual outcomes. However, there were 3 exceptional cases that required surgical intervention., Conclusions: The findings that spontaneous orbital hemorrhages related to EOMs have certain predisposing factors, a characteristic radiological appearance, and a typically benign course will be helpful for clinicians in the management of this condition.

A 68-year-old female presented for assessment of a space occupying lesion of her right orbit, demonstrated on MRI. An upper lid crease anterior orbitotomy was performed and the lesion excised completely. Postoperatively, she had reduced sensation in the distribution of the supraorbital nerve. Histopathologic examination of the excised lesion revealed a hybrid neurofibroma/schwannoma. This represents the fourth reported case of such a lesion arising within the orbit.

Purpose: To describe the demographics, presentation, treatment, and outcome in 10 cases of lacrimal sac diverticulum and to review the literature on this topic, and to determine the incidence of diverticula from a series of dacryocystograms., Methods: Data were collected for all consecutive patients with lacrimal sac diverticulum seen between 2003 and 2015, including patient demographics, clinical presentation, imaging findings, treatment, and follow-up. A systematic literature review was performed for cases of lacrimal sac diverticulum. A retrospective review of 400 consecutive dacryocystograms was performed to determine the incidence of lacrimal sac diverticulum., Results: Ten cases (9 patients) of lacrimal sac diverticulum are described, and a further 36 cases were discovered through a literature review. Epiphora, swelling, and dacryocystitis and/or diverticulitis were the most common presenting complaints. When all 46 cases are combined, lacrimal patency was demonstrated in 50% of cases. Dacryocystography diagnosed only 57% of patients with diverticulum, not helped by the addition of ultrasound or CT. The incidence of diverticulum was 3.2% on review of 400 consecutive dacryocystograms (1.6% per lacrimal system). Surgical management with dacryocystorhinostomy and/or diverticulum excision was effective in all 34 operated cases at resolving symptoms in the case series and literature review., Conclusions: Lacrimal sac diverticula present with epiphora, medial canthal swelling, dacryocystitis, and/or diverticulitis. Dacryocystography, despite being the most sensitive radiologic test, is only 59% sensitive, and adjunctive CT and ultrasound have limited use. Surgical management is recommended because conservative management often fails. Dacryocystorhinostomy, diverticulum excision, or a combination thereof appears to be equivalent in achieving resolution of symptoms.

Aims: To review the distribution of pathology in extraocular muscle (EOM) biopsies performed at a tertiary orbital centre, identify clinical and imaging features which are associated with benign or malignant diseases and indicate when biopsy is necessary for EOM enlargement., Methods: Retrospective case series including 93 patients with EOM enlargement who underwent an EOM biopsy. Clinical, radiological and histopathological information was recorded from the medical records. Statistical analysis was used to compare variables between patients with malignant and benign biopsies., Results: The median age of subjects was 61.1 years. Forty-eight cases (52%) were benign and 45 (48%) were malignant. Those with malignant pathology were significantly older (P<0.0001). Males were more likely affected by a benign disease and females by a malignancy (P=0.029). A history of malignancy (P<0.0001) and diplopia (P=0.029) were significant factors in predicting a malignancy. Pain (P=0.005) and eyelid erythema (P=0.001) were more likely in benign conditions. Idiopathic orbital inflammation was the most common benign diagnosis and lymphoma the most common malignancy., Conclusions: Biopsy is warranted in those with an atypical presentation of EOM enlargement or suspected of having a malignancy. Some features such as age, gender, pain, diplopia, history of malignancy and eyelid erythema may help indicate a particular diagnosis; however, clinical features and imaging findings are often not pathognomonic of each disease., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Purpose: To identify the causes of blepharoptosis in young adults, and explore cases that do not fit into current diagnostic categories., Methods: A retrospective cohort study of all patients aged 18-40 years ("young adults") with acquired blepharoptosis that presented to two specialist ocular plastics practices and a paediatric ophthalmologist over a period of up to 25 years. Each patient was classified according to diagnosis. Where the diagnosis was uncertain, the files were examined in detail to try and further establish a cause., Results: A total of 266 young adult patients were included. The most common causes of acquired blepharoptosis were trauma-related (28.2%) and anophthalmic blepharoptosis (19.9%). In 12.4% of the cases, a definite diagnosis could not be made. Of these, one-third had a history of soft contact lens use, a possible etiologic factor., Conclusions: The cause of acquired blepharoptosis can usually be established by an appropriate history and examination, with additional diagnostic tests sometimes required. Nearly half of all young adult ptosis is related to trauma or acquired anophthalmos. Around one in eight young adults have blepharoptosis of unknown cause, a group warranting further study.

Purpose: To describe the etiology of acquired pediatric blepharoptosis in a large clinical series and to elucidate the causes of the disease., Methods: The medical records of all patients presenting with acquired blepharoptosis at two specialist ocular plastics practices and a pediatric ophthalmology practice during a period of up to 25 years were reviewed retrospectively and classified according to their diagnosis. Patients were grouped into children (<18 years), younger adults (18-40 years), and older adults (>40 years)., Results: A total of 268 patients <18 years of age were identified. The most common identifiable causes of acquired blepharoptosis in children were infantile hemangioma (n = 92 [34.3%]) and trauma (n = 41 [15.3%]). In 42 cases (15.7%) a definite diagnosis could not be made., Conclusions: The etiology of pediatric acquired blepharoptosis can frequently be determined by history and examination; additional diagnostic tests are sometimes required. A high percentage of pediatric patients have blepharoptosis of unknown cause., (Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

The aim of this study was to determine whether pre-operative levator function and degree of ptosis affect surgical outcomes in children with congenital ptosis undergoing anterior levator resection under general anaesthesia. Retrospective cohort study. Children with 'simple' congenital ptosis who underwent anterior levator resection under general anaesthesia. Consecutive cases were reviewed with regards to achievement of the desired lid height (surgical success), and the influence of preoperative levator function and degree of ptosis. The amount of pre-operative levator function and degree of ptosis, with corresponding surgical outcomes. Forty-two lids (37 patients) were included in the study: 36 primary and 6 revision cases (which were excluded from analysis due to small sample size). Mean age was 7 years (range 3-17 years), with similar male to female ratio (1.2:1). The overall success rate for primary was 86%. There were small to moderate trends towards greater amount of levator resection for lower levator function (r 2 = -0.25, p < 0.05) and higher degree of ptosis (r 2 = 0.38, p < 0.05). All successful primary cases (n = 31) had pre-operative levator function of at least 8 mm. Levator resection in children under general anaesthesia continues to be an imprecise science. Degree of ptosis and levator function were poorly correlated to each other; however, there was an expected small to moderate correlation between resection amount and levator function (negative correlation) or degree of ptosis (positive correlation). Patients with levator function of 8mm or more are likely to have a successful outcome.

Purpose: To report 4 cases of Marcus Gunn jaw-winking synkinesis (MGJWS) in the absence of ptosis., Methods: A retrospective review of patients with MGJWS and congenital ptosis was compiled from the public and private subspecialty adult and pediatric oculoplastic practices of the 2 senior authors (AAM, TGH). Clinical data collected on patients with MGJWS included visual acuity, stereopsis, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs and videos, and any management undertaken., Results: A total of 848 cases of congenital ptosis were seen. Of these, there were 72 consecutive patients with MGJWS, of which 4 cases (5.6%) had no ptosis. One patient had bilateral MGJWS, with ptosis on one side only. The authors found the incidence of MGJWS in our study population to be 8.5% of all congenital ptosis cases. When the authors excluded syndromic, neurogenic, and myopathic causes of congenital ptosis, the incidence was 12.1%. In addition, the authors found a trend toward females with simple congenital ptosis and MGJWS being affected on the left side, however this was not statistically significant., Conclusions: The authors report the first case series of MGJWS in the absence of ptosis within the second largest series ever reported. These findings may help further our understanding of the etiology behind MGJWS.

Purpose: To describe the demographics, presentation, and treatment of "silent sinus syndrome" (SSS) diagnosed following orbital trauma and review the literature on this topic., Methods: A retrospective review of 6 consecutive cases of SSS following trauma seen by the authors from 2004 to 2015. Data collected included patient demographics, details of previous trauma, clinical presentation, imaging findings, surgery performed, outcome, and follow up., Results: Six patients were identified presenting with SSS following orbital floor fracture. All cases developed progressive enophthalmos due to maxillary sinus atelectasis on average 8 months after their initial trauma (range, 3-16 months). The appearance of the maxillary sinus on CT was indistinguishable from the changes seen in spontaneous SSS. All 6 patients had surgical repair, which included maxillary sinus reventilation and surgery to build up the orbital floor and correct the enophthalmos in 4 patients, maxillary sinus reventilation surgery only in 1 patient and surgery to build up the orbital floor only in 1 patient. There was a reduction of enophthalmos and globe dystopia in all cases with no significant complications., Conclusions: Changes in the maxillary sinus after orbital floor fracture may occur in the months following the initial trauma and the changes are indistinguishable from those seen in spontaneous SSS. The mechanism is presumed to be obstruction of the natural ostium of the maxillary sinus, accumulation of secretions and the development of negative pressure within the sinus leading to its collapse.

The authors report a case of a 70-year-old man who presented with a long history of left pulsatile proptosis, irritation, and a pressure sensation behind the eye. Initial computed tomography brain demonstrated the presence of a suspected ethmoid sinus mucocele. Endoscopic sinus surgery was performed to drain the mucocele. On cautious opening of the nasal mucosa, cerebrospinal fluid was encountered requiring subsequent repair with local mucosal flap and fat graft. On further magnetic resonance imaging, the lesion was confirmed to be giant pseudomeningocele arising from the sphenoid sinus, with extensive invasion and erosion of the middle cranial fossa including the left lateral orbital wall. Here, the authors report, to the best of their knowledge, the first case of spontaneous giant pseudomeningocele in the middle cranial fossa causing pulsatile proptosis. In examining this case, the authors will also discuss the pathogenesis, diagnosis, and management of giant pseudomeningoceles, especially in the situation of a misdiagnosis.

Prolidase deficiency and solitary mastocytoma of the eyelid are both exceedingly rare. Prolidase deficiency is an inherited connective tissue disorder that has systemic sequelae, such as intractable skin ulceration, poor wound healing, recurrent infections, and intellectual impairment. Cutaneous mastocytoma is an isolated, aberrant cutaneous aggregation of mast cells. A case of an adult with severe prolidase deficiency who developed cutaneous mastocytoma of the eyelid was presented. To the authors' knowledge, adult-onset solitary mastocytoma of the eyelid has never been reported previously.

To describe post-traumatic and congenital respiratory epithelial cysts in the orbit, which are rare lesions with only 5 and 13 published cases, respectively. We reviewed all cases of respiratory epithelial cysts diagnosed at three institutions (two tertiary referral hospitals, one private clinic) between 1995 and 2015. We describe 10 cases of post-traumatic respiratory epithelial cyst (age range 23 - 82), presenting a mean of 17.4 years after their original trauma; and 3 congenital cases (age range 17-34). All but one case underwent surgical excision of the cyst and its lining, along with any surgical implant within the cyst. Two were recurrent after incomplete excision. Three presented with acute infection within the cyst. Respiratory epithelial orbital cysts are probably commoner than the paucity of published reports would suggest. Post-traumatic cysts often present many years after trauma, and may become secondarily infected. Complete surgical removal is recommended to prevent future recurrence.

Purpose: Thyroid-associated orbitopathy (TO) is an autoimmune-mediated orbital inflammation that can lead to disfigurement and blindness. Multiple genetic loci have been associated with Graves' disease, but the genetic basis for TO is largely unknown. This study aimed to identify loci associated with TO in individuals with Graves' disease, using a genome-wide association scan (GWAS) for the first time to our knowledge in TO., Methods: Genome-wide association scan was performed on pooled DNA from an Australian Caucasian discovery cohort of 265 participants with Graves' disease and TO (cases) and 147 patients with Graves' disease without TO (controls). Top-ranked single nucleotide polymorphisms (SNPs) then were genotyped in individual DNA samples from the discovery cohort, and two replication cohorts totaling 584 cases and 367 controls., Results: In the GWAS of pooled DNA samples, several SNPs showed suggestive association with TO at genome-wide P ≤ 10-6; rs953128 located on chr10q21.1, rs2867161 on chr7q11.22, rs13360861 on chr5q12.3, rs7636326 on chr3q26.2, rs10266576 on chr 7q11.22, rs60457622 on chr3q23, and rs6110809 on chr20p12.1. However, the only SNP consistently associated with TO on individual genotyping in the discovery and replication cohorts was rs6110809, located within MACROD2 on chromosome 20p12.1. On combined analysis of discovery and replication cohorts, the minor A allele of rs6110809 was more frequent in TO than in Graves' disease controls without TO (P = 4.35 × 10-5; odds ratio [OR] = 1.77; 95% confidence interval [CI], 1.35-2.32) after adjusting for age, sex, duration of Graves' disease, and smoking., Conclusions: In patients with Graves' disease, a common genetic variant in MACROD2 may increase susceptibility for thyroid-associated orbitopathy. This association now requires confirmation in additional independent cohorts.

Purpose: To describe a surgical procedure and its outcomes for the management of chronic pseudomembranous kerato-conjunctivitis secondary to giant fornix syndrome (GFS)., Methods: Retrospective case series of 6 patients undergoing fornix shortening surgery for giant fornix syndrome., Results: Surgery produced complete resolution of symptoms in 5/6 (83%) patients and complete relief prior to partial relapse in 1. Mean follow up was 18 months (range: 3-41 months). In the 4 (of 6) patients who had measurements taken, the mean upper eyelid forniceal depth reduced from 21.25 mm (n = 4, SD: 2.87) preoperatively to 16.5 mm (n = 4, SD: 2.65) postoperatively., Conclusions: Fornix reconstruction may be an effective and well-tolerated treatment for refractory GFS. Resection of excess conjunctiva restores the normal anatomy within the conjunctival cul-de-sac thereby reducing the incidence of protein coagulum formation.

Purpose: We aimed to determine differentially expressed genes relevant to orbital inflammation and orbital fat expansion in thyroid orbitopathy (TO) using microarray gene profiling in a case-control study., Methods: Human orbital adipose samples were obtained from individuals with active TO (n = 12), inactive TO (n = 21), and normal controls (n = 21). Gene expression profiles were examined using microarray analysis and were compared between active and inactive TO, and between active TO and normal controls. Top ranked differentially expressed genes were validated by real-time RT-PCR in an additional eight active TO, 13 inactive TO, and 11 normal controls and correlated with gene set enrichment analysis (GSEA) and molecular pathways analysis., Results: Seven hundred twenty-one probes (683 genes) and 806 probes (735 genes) were significantly differentially expressed in comparing active to inactive TO and in comparing active TO to healthy controls, respectively. All selected genes were confirmed to be differentially expressed by real-time RT-PCR. Multiple top ranked genes in active versus inactive TO comparison are overrepresented by immune and inflammatory response genes. They include defensins (DEFA1, DEFA1B, DEFA3), which were overexpressed by 3.05- to 4.14-fold and TIMD4 by 4.20-fold. Markers for adipogenesis were overexpressed including SCD, FADS1, and SCDP1. Gene set enrichment analysis revealed dysregulation of epigenetic signatures, T-cell activation, Th1 differentiation, defensin pathway, cell adhesion, cytoskeleton organization, apoptosis, cell cycling, and lipid metabolism in active TO., Conclusions: Active TO is characterized by upregulation of genes involved in cell-mediated immune, innate immune, and inflammatory response and enhanced orbital adipogenesis. TIMD4, DEFA1, DEFA1B, and DEFA3 genes may be involved in the innate immune-mediated orbital inflammation in TO. Epigenetic mechanisms may play a role in the pathogenesis of TO.