IgG4-related Orbital Disease Presenting as an Orbital Apex Lesion.

IgG4-related disease is an uncommon multisystem inflammatory disease characterized by tissue infiltration by IgG4 plasma cells, extensive fibrosis, and sclerosing inflammation. Diffuse orbital involvement extending to the orbital apex and cavernous sinus has been reported, but a solitary well-circumscribed lesion at the apex has not been previously reported. Herein, we report a unique case of IgG4-related orbital disease presenting as a solitary well-circumscribed orbital apex lesion causing subacute visual decline in a 45-year-old male. MRI demonstrated bilateral lacrimal gland and infraorbital nerve enlargement and an 18 × 7 mm left orbital apex lesion demonstrating homogeneous contrast enhancement and isointense signal on T2. He was initially treated with tapering systemic corticosteroid therapy with improvement in his vision; however, he experienced visual deterioration 3 months later with recurrent inflammation. He subsequently commenced high-dose systemic corticosteroid therapy and rituximab infusions with improvement of left visual acuity to 6/7.5 + 2.

Radiological analysis of orbital lymphoma histological subtypes.

PURPOSE: To characterise the radiological features of orbital lymphoma subtypes. METHODS: This was a multicentre, retrospective study to analyse radiological and clinical characteristics of orbital lymphoma by histological subtype across two sites within Australia and the United States. RESULTS: A total of eighty-eight patients were included. The most common subtypes were extranodal marginal zone lymphoma [EMZL] (48, 54.5%), follicular lymphoma [FL] (16, 18.2%), and diffuse large B-cell lymphoma [DLBCL] (15, 17.0%). Clinically, significant associations were found between DLBCL and vision change (p < .01), pain (p < .01), extraocular movement limitation (p = .01), and optic neuropathy (p = .01). Radiologically, there was no significant difference between the individual histopathological sub-groups with respect to bone destruction (p = .30), optic nerve involvement (p = .30) and diffuse appearance (p = .84). However, if categorised as either aggressive or indolent, aggressive lymphoma subtypes were significantly more likely to demonstrate globe indentation radiologically than indolent subtypes (Odds Ratio = 5.5, 95% CI: 1.3, 23.3; p = .02). CONCLUSIONS: DLBCL was significantly associated with vision change, pain, extraocular movement limitation and optic neuropathy clinically. Aggressive lymphoma subtypes were significantly more likely to demonstrate globe indentation radiologically. Otherwise, there were no significant differences between lymphoma subtypes and radiological findings on MRI and CT.

Soft stop on syringing and probing may have a high false-positive rate in diagnosing pre-sac obstruction.

PURPOSE: To determine the diagnostic value of 'soft stops' encountered during lacrimal syringing and probing. METHODS: Single-center retrospective review. Adult patients with epiphora attending a tertiary lacrimal clinic from May 2010 to April 2021 were reviewed. Cases with evidence of soft stop encountered during lacrimal syringing/probing were included, and patients with possible canaliculitis or a history of lacrimal surgery were excluded. Findings of syringing/probing consistent with pre-sac obstruction were correlated with dacryocystography (DCG) and surgical findings. RESULTS: 53 (10.2%) canalicular systems had soft stops on syringing/probing and were included in the analysis. The mean age of the patients was 63.8 ± 15.6 (range 28-87) years, and 27 (65.9%) were females. Intraoperative examination findings were available for 27 of 30 cases that underwent lacrimal surgery and DCG was available for 40 systems. Pre-sac obstruction found on syringing/probing was confirmed in 40% and 37% of cases on DCG and surgery, respectively. The correlation between syringing/probing and DCG was stronger for canalicular than for common canalicular location (p = 0.016). Canalicular stenosis on syringing/probing manifested as pre-sac abnormality on DCG in 5/7 (71.4%) compared to 0/6 common canalicular stenosis cases (p = 0.021). Based on the surgical findings, the false-positive rate of a soft stop on syringing/probing was highest for common canalicular 'stenosis' (100%) and lowest for canalicular 'block' (45.5%; p = 0.093). Findings of pre-sac obstructions on DCG were confirmed in 85.7% of the cases intraoperatively (p = 0.035 compared to syringing/probing alone). CONCLUSIONS: Soft stops on probing showed poor correlation with DCG and surgical findings, particularly in common canalicular location.

Optic nerve infiltration in systemic non Hodgkin lymphoma.

Optic nerve infiltration secondary to systemic non-Hodgkin lymphoma (NHL) is a rare phenomenon. We present a 55-year-old man with low-grade systemic NHL who initially presented with an isolated optic neuropathy and non-specific neurological symptoms. We further present a literature review of systemic NHL with radiological evidence of optic nerve infiltration. On magnetic resonance imaging, the characteristic features include optic nerve enhancement and enlargement, while leptomeningeal enhancement is uncommon. Cerebrospinal fluid analysis and optic nerve sheath biopsy can return false negative results, and when such investigations are inconclusive, biopsy of the optic nerve substance has a high diagnostic yield. Although rare, lymphomatous optic nerve infiltration must be considered in the differential diagnosis of a pale swollen optic disc.

Intraorbital and intracranial extension of adenoid cystic carcinoma without clinical or radiological lacrimal gland involvement.

Adenoid cystic carcinoma (AdCC) is a rare epithelial neoplasm of the head and neck, most commonly found in the salivary glands. Orbital AdCC is an uncommon clinical entity arising from the lacrimal glands, however primary orbital AdCC has been previously described in a small number of case reports. The exact origin of the neoplasm with uninvolved lacrimal gland in the orbit is unknown, however it may arise from ectopic lacrimal or salivary gland tissue, or extension from nearby epithelial structures. We describe the clinical characteristics, investigations and management of a 55-year-old man presenting with vertical diplopia, found to have left posterior orbital AdCC invading the skull base with intracranial extension involving the inferotemporal fossa, pterygopalatine fossa, left carotid artery, cavernous sinus and temporal lobe dura, without clinical or radiological lacrimal gland involvement or systemic metastases.

Bilateral lacrimal gland disease: clinical features and outcomes.

BACKGROUND: Patients with bilateral lacrimal gland disease are a unique subset of patients where there is a paucity of literature. This presentation often represents systemic disease or malignancy and can cause diagnostic difficulties. We aim to describe the diagnoses and features of bilateral lacrimal gland disease. METHOD: Retrospective multi-centre case series involving 115 patients with bilateral lacrimal gland disease from 1995 to 2020. RESULTS: 115 patients were included. Their ages ranged from 9 to 85 (mean 47.3 years) with a female predominance (73, 63.5%). The most common category of diagnosis was inflammatory (69, 60%) followed by lymphoproliferative (23, 20%), structural (17, 14.8%) and other conditions (6, 5.2%). The five most common specific diagnoses were IgG4 related disease (20, 17.4%) and idiopathic orbital inflammatory disease (20, 17.4%), lymphoma (16, 13.9%), lacrimal gland prolapse (13, 11.3%), and sarcoidosis (11, 9.6%). Corticosteroid treatment was used most commonly (29, 25.2%) followed by observation (25, 21.7%). At last follow up, the majority of patients had complete resolution, significant improvement with mild residual disease or stable disease without further progression (104, 90.4%). CONCLUSION: Bilateral lacrimal disease may be due to a range of aetiologies, most of which are systemic. The most common are inflammatory and lymphoproliferative conditions. Due to the wide range of aetiologies of bilateral lacrimal gland disease, it is extremely difficult to accurately determine a cause based on clinical findings alone, highlighting the vital role of lacrimal gland biopsy in patients presenting with bilateral lacrimal gland disease.

Primary Nasocutaneous Fistulae in Granulomatosis With Polyangiitis: A Case Series and Literature Review.

PURPOSE: To report the presentation, investigation, management, and outcomes of primary nasocutaneous fistulae in granulomatosis with polyangiitis and review the literature of this complication. METHODS: Retrospective series of 5 patients with granulomatosis with polyangiitis and nasocutaneous fistulae and the medical and surgical management strategies employed. RESULTS: Two cases presented with fistulae as the primary symptom of their systemic disease. Systemic management of granulomatosis with polyangiitis is a primary concern and two cases had inadequate control at presentation such that surgical intervention was deferred. Of the other 3 cases, 2 were closed using a median forehead flap and the other with an orbicularis advancement flap. An endonasal approach was attempted in 1 case but was unsuccessful due to the friable nature of the nasal mucosal tissue. CONCLUSIONS: Nasocutaneous fistulae should alert the clinician to underlying granulomatosis with polyangiitis, which may be a presentation of this condition. Systemic management of disease is often a barrier to surgical management. Myocutaneous flaps may be the most reliable management option to achieve closure.

Outcomes of surgical resection of sphenoid-orbital meningiomas with Sonopet ultrasonic aspirator.

Purpose: Surgical resection is the mainstay of treatment for spheno-orbital meningiomas. The Sonopet® is an ultrasonic aspirator device that provides several advantages over the traditional standard suction techniques and bone drill, including decreased collateral soft tissue damage, more precise bone removal and a clearer operative field. The purpose of the study was to examine the treatment outcomes of Sonopet®-assisted resection of spheno-orbital meningiomas.Methods: A retrospective chart review was conducted in seven patients with spheno-orbital meningioma in a single institution who underwent surgical resection with the Sonopet®. Pre-operative and post-operative data included the assessment of visual acuity, relative afferent pupillary defect (RAPD), Ishihara score, proptosis, fundus examination, computerised visual fields and the presence or absence of diplopia, headache, and other neuro-ophthalmic complications.Results: Nine Sonopet®-assisted procedures were performed on seven patients. Post-operatively, 89% of cases had stabilization or improvement of visual acuity and colour vision, whilst 29% had improved visual fields with the remainder being stable. Proptosis improved in all patients. Five of nine cases (44%) had new post-operative cranial nerve palsies, of which 75% were transient. One patient had tumour recurrence after 14 months, requiring further tumour resection and radiotherapy.Conclusion: Sonopet®-assisted resection of spheno-orbital meningiomas has comparable outcomes of visual improvement and complication rates to traditional resection techniques. Longer periods of post-operative observation and follow-up are recommended to observe long-term benefits.

Clinico-radiological Diagnosis of Optic Nerve Choristomas.

Optic nerve choristomas are very rare lesions. They are characterised by the presence of fat cells, mesodermal collection of fibrous tissue and smooth muscle, and atrophic optic nerve tissue. Although the condition can be diagnosed on histology, it is not always possible to carry out surgical exploration for tissue diagnosis in view of the apical location of the lesion and the inherent risk to vision from surgery. Detailed neuro-imaging becomes vital in these cases for diagnosis. We report a case of a patient with an optic nerve choristoma diagnosed on neuroimaging, review the current literature related to this condition, and discuss the key clinico-radiological features of optic nerve choristomas.

Nasolacrimal duct obstruction secondary to lacrimal sac involvement by sebaceous carcinoma.

Sebaceous carcinoma (SC) is the third most common eyelid malignancy in Australia, and is potentially fatal. It usually presents as a nodule or diffuse eyelid thickening, and is commonly misdiagnosed. We describe a case of SC with lacrimal sac involvement, presenting with clinical features of nasolacrimal duct obstruction. At the time of endoscopic dacryocystorhinostomy (DCR), nasal endoscopy revealed a polypoid mass of the opened lacrimal sac. Biopsy of the mass showed poorly differentiated SC. The lacrimal drainage apparatus was later excised via a combined external and endoscopic approach. Conjunctival map biopsies showed extensive intraepithelial disease, which was treated with topical mitomycin C. At three-month follow-up, there was no evidence of residual disease on nasal endoscopy or repeat conjunctival biopsy.

Natural history of primary paediatric optic nerve sheath meningioma: case series and review.

PURPOSE: To study the natural history, clinical and radiological characteristics of primary paediatric optic nerve sheath meningioma (PPONSM). METHODS: Retrospective study of eight paediatric patients who were treated between 1994 and 2016 at the University Hospital Zurich, Switzerland and the Royal Adelaide Hospital, Australia. Clinical records and imaging studies were reviewed. RESULTS: The mean age at presentation was 11 years (range: 6-17 years). There were six female patients and two male patients. 2/8 patients had associated neurofibromatosis type 2. Patients were followed up for 71-297 months (mean 156±70 months). 6/8 patients were observed through the course of their disease and 2/8 patients were treated with radiotherapy. 2/8 patients who were observed had minimal change in vision and did not experience tumour growth after long-term follow-up. CONCLUSIONS: This is the largest PPONSM case series with long-term data on patients treated conservatively. We highlight that a small subset of these tumours are indolent and can be managed using observation alone.

A Case of a Spontaneous Self-resolving Retrobulbar Hemorrhage Following 3,4-Methylenedioxy-methamphetamine Use.

This case report discusses the case of a 23-year-old male patient who experienced retrobulbar pain, diplopia, proptosis, and mild lower eyelid bruising after consuming 3,4-methylenedioxy-methamphetamine. The symptoms settled over 10 days and vision returned to normal without intervention. The authors discuss the differential diagnosis relevant to the presenting complaints and propose several mechanisms linking 3,4-methylenedioxy-methamphetamine use to spontaneous nontraumatic intraorbital hematoma.

Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy.

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.

Unifocal Langerhans cell histiocytosis of the superior oblique muscle.

Orbital Langerhans cell histiocytosis (LCH) without bone involvement is rare. Isolated involvement of an extraocular muscle without bone change, to the best of the authors' knowledge, has not been previously reported. They describe a unique case of unifocal LCH of the superior oblique muscle with no bone involvement. A 16-year-old girl presented with a 2-week history of diplopia and headache. CT and MRI showed an enlarged right superior oblique muscle with no associated bone involvement. Biopsy with partial debulking revealed LCH and staging confirmed unifocal disease. The lesion underwent complete radiologic resolution following surgery. There was no recurrence after 16 months follow up.

Merkel cell carcinoma of the eyelid: management and prognosis.

IMPORTANCE: The literature on Merkel cell carcinoma (MCC) of the eyelid remains scarce, and there has yet to be a study using the most up-to-date TNM staging system for this rare but aggressive tumor. OBJECTIVE: To analyze the TNM stage, management, and outcomes of patients with MCC of the eyelid. DESIGN, SETTING, AND PARTICIPANTS: Retrospective case series of 21 patients from 5 tertiary referral centers in the United Kingdom and Australia with primary MCC of the eyelid presenting at a median age of 77 years, with median follow-up of 54 months. Tumors were staged according to the American Joint Committee on Cancer, 7th edition, TNM criteria for eyelid carcinoma and MCC. MAIN OUTCOMES AND MEASURES: TNM stage, treatment modalities, and clinical outcome. RESULTS: The eyelid carcinoma TNM stages were T2aN0M0 for 5 patients, T2bN0M0 for 7 patients, T3aN0M0 for 4 patients, T3bN0M0 for 3 patients, T2bN1M0 for 1 patient, and T3aN1M0 for 1 patient. The MCC TNM stages were T1N0M0 for 12 patients, T2N0M0 for 7 patients, T1N1M0 for 1 patient, and T2N1M0 for 1 patient. One patient had a sentinel lymph node biopsy, and 8 patients underwent head/neck imaging. Eighteen patients underwent a wide local excision, 12 with a paraffin section and 6 with a frozen section. Two patients underwent Mohs surgery, 1 of whom required an orbital exenteration. Twelve patients (57%) received adjuvant radiotherapy, and 2 patients received chemotherapy. The local recurrence rate was 10%, the regional nodal recurrence rate was 10%, and the distant metastatic recurrence rate was 19%. The lowest T category tumor metastasizing to both regional nodes and distant locations was a T2a (eyelid TNM)/T1 (Merkel TNM) tumor measuring 8 mm. Two patients with T3a (eyelid TNM)/T2 (Merkel TNM) tumors died of metastatic MCC. CONCLUSIONS AND RELEVANCE: The majority of patients with MCC of the eyelid present with localized eyelid disease of T category T2 (eyelid TNM)/T1 (Merkel TNM). A wide local excision with margin control remains the mainstay of treatment, whereas the use of radiotherapy is institution specific. Tumors with a low T category are associated with regional nodal and distant metastatic disease. It may therefore be reasonable to consider a sentinel lymph node biopsy or strict regional lymph node surveillance for all MCCs of the eyelid, regardless of T category or size.