Clinico-radiological findings of neuroendocrine tumour metastases to the orbit.

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.

The 2017 Doyne Lecture: the orbit as a window to systemic disease.

A very large number of disorders affect the orbit, and many of these occur in the setting of systemic disease. This lecture covers selected aspects of orbital diseases with systemic associations in which the author has a particular clinical or research interest. Spontaneous orbital haemorrhage often occurs in the presence of bleeding diatheses. Thrombosis of orbital veins and ischaemic necrosis of orbital and ocular adnexal tissues occur with thrombophilic disorders, vasculitis, and certain bacterial and fungal infections. Non-infectious orbital inflammation commonly occurs with specific inflammatory diseases, including Graves' disease, IgG4-related disease, sarcoidosis, Sjögren's syndrome and granulomatosis with polyangiitis, all of which have systemic manifestations. IgG4-related ophthalmic disease is commoner than all these except Graves' orbitopathy. Some of these orbital inflammatory diseases are associated with an increased risk of B-cell lymphoma, usually marginal zone lymphoma of MALT type. Ocular adnexal lymphoma also has an association with infectious agents including Helicobacter pylori and Chlamydia psittaci. Orbital metastasis may be the first presentation of systemic malignancy. A number of orbital neoplasms occur in the setting of familial cancer syndromes, including Neurofibromatosis types 1 and 2. Study of the genetics and molecular biology of orbital diseases such as Graves' orbitopathy and idiopathic orbital inflammatory disease will yield useful information on their diagnosis and management.

Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review.

BACKGROUND/AIMS: Adult xanthogranulomatous disease involving the ocular tissues is rare and poorly understood. Adult onset xanthogranuloma (AOX), adult onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic xanthogranuloma (NBX), and Erdheim-Chester disease (ECD) are the four syndromes within this disorder, which is diagnosed by characteristic histopathology. Experience with eight cases prompted a multi-institutional effort to study the histopathology, immunohistochemistry, clinical findings, and systemic associations in this disorder. METHODS: 22 cases, including histopathological slides, were compiled. Published reports were identified by an English language Medline search (1966-2005) and review of reference citations. Each case in this series and the literature was classified as one of four syndromes and then analysed for age onset, sex, skin xanthoma, orbital location, immune dysfunction, internal organ and bone lesions, treatment, and outcome. The histopathology in each of these cases was reviewed by two pathologists. Immunhistochemical stains (CD3, CD4, CD8, L26) were performed in 14 cases where unstained slides were available. RESULTS: 137 cases were compiled. There was no sex or age difference between syndromes. AOX, AAPOX, NBX affect the anterior orbit, ECD tends to be diffuse and intraconal. Skin lesions are found in all the syndromes. Immune dysfunction was noted in all cases of AAPOX and NBX; 11% of NBX and all ECD patients had internal organ disease. Treatment included surgery, corticosteroids, other chemotherapeutic agents, radiotherapy, and combinations of these. No AOX or AAPOX deaths occurred; 66% of ECD patients died. All 22 cases had xanthoma cells; most had Touton giant cells. Lymphocytes were present in all cases and occurred as aggregates (mostly in AAPOX) or diffuse populations mixed with fibroblasts (mostly in ECD). Immunohistochemistry revealed the majority of these to be CD8+. Necrosis was most marked in NBX. CONCLUSION: Adult xanthogranuloma of the orbit is rare, making prospective evaluation or meta-analysis impossible. The best treatment is unknown but seems to be with multiagent chemotherapy guided by histopathological, immunohistochemical, and systemic findings.

Orbitofrontal cholesterol granuloma.

Cholesterol granuloma of the orbital bones is a rare but readily recognisable condition. It is an osteolytic lesion with a granulomatous reaction surrounding cholesterol crystals, old haemorrhage and a fibrous capsule. There is a male preponderance and it usually occurs in young or middle-aged men. It is treatable with drainage and curettage via an orbitotomy, and craniotomy or wide bone removal is almost never required. Six cases of this condition were reviewed to highlight the typical clinical presentation, computed tomography and magnetic resonance results, and surgical management.

Iron overload is a risk factor for zygomycosis.

Well-recognized risk factors for zygomycosis include diabetic ketoacidosis, immunocompromise, and deferoxamine therapy for iron or aluminum overload, usually in patients undergoing kidney dialysis. We report a case of fatal nasal-orbital-cerebral zygomycosis in an 82-year-old man with known myelodysplasia and well-controlled diabetes. He was not receiving deferoxamine. Despite radical surgery and amphotericin B therapy, he died; primary hemochromatosis with gross iron overload was found post mortem. Experimental evidence suggests iron overload without deferoxamine therapy may be a risk factor for zygomycosis; the findings in this case would support this hypothesis.

Primary orbital liposarcoma: clinical and computed tomographic features.

Liposarcoma of the orbit is rare. The clinical and radiological characteristics of two cases, of myxoid and pleomorphic types, are reported. In neither case was the histological diagnosis evident before surgery.

A technique for reconstruction of upper lid marginal defects.

BACKGROUND/AIMS: Reconstruction of large full thickness upper lid defects that cannot be closed directly often rely on utilising the lower lid. An example is the Cutler Beard procedure. A one stage technique for repair of large horizontal upper lid defects utilising local posterior and anterior lamella advancement flaps is described and the results reported. METHOD: Eight cases with upper lid defects repaired utilising this technique were reviewed retrospectively. The procedures were carried out by one surgeon. The upper lid lesions were removed under frozen section control. The mean follow up time was 35 months. RESULTS: All patients had a good cosmetic result. One patient had a recurrence of the upper lid lesion. Two patients complained of corneal irritation from lanugo hairs. The technique was modified to prevent this complication. CONCLUSIONS: Large upper lid marginal defects can be readily repaired using the technique described with local advancement flaps with no significant complications.

Primary optic nerve sheath meningioma.

Fifty patients with optic nerve sheath meningiomas have been reviewed with a follow-up of up to 15 years. The median age at onset of their symptoms was 40.0 years. The majority were middle aged females with a slowly progressive lesion. More aggressive lesions were encountered in a younger, predominantly male group of patients with frequent intracranial involvement. Our experience indicates that a more aggressive surgical approach to these lesions is needed to prevent this sequence of events. Meningiomas in older individuals often do not need treatment, though radiotherapy can be beneficial.

Optic nerve glioma and the management of optic nerve tumours in the young.

Thirty-one patients presenting as orbital optic nerve glioma have been reviewed with maximum follow-up of 14 years. Sixteen of these patients have been reported on previously and further follow-up is provided. Sixteen patients had a stable clinical course with little change over a period of up to 13.5 years. Neurofibromatosis was relatively common in this group (11/16). Fifteen patients had progressive enlargement of the tumour; the incidence of neurofibromatosis in this group was low (4/15). Eleven of these patients were explored neurosurgically and the optic nerve totally excised in 10 of them. The proximal cut end was normal in six patients and the chiasm has apparently remained free of tumour in all of them. We suggest a method of management of primary optic nerve tumours, both meningiomas and gliomas, in young patients.

The EEC syndrome and its ocular manifestations.

The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with autosomal dominant inheritance, variable expression, and in some families lack of penetrance. We present the findings in five cases with emphasis on the ocular findings. Lacrimal surgery was performed on three patients with good results in each case. We also report the occurrence of spontaneous corneal perforation in two cases, a complication not previously recognised. The ophthalmic care of these patients must be pursued long-term, as progressive visual impairment may be the most disabling feature of the syndrome.

Orbital malignant peripheral nerve sheath tumours.

We describe three patients with malignant peripheral nerve tumours in the orbit and review the existing literature on these rare lesions.

Extracranial orbital decompression for optic neuropathy in Graves' eye disease.

Optic neuropathy affects a small proportion of patients with Graves' eye disease. It is due to optic nerve compression by enlarged extraocular muscles and can be treated by corticosteroids, irradiation or surgical orbital decompression. The current report evaluates the effectiveness of extracranial orbital decompression performed by one surgeon for optic neuropathy in Graves' eye disease. The records of 21 patients (33 orbits) undergoing extracranial orbital decompression for Graves' optic neuropathy were analysed for changes in visual acuity and colour vision and reduction in proptosis. Visual acuity and colour vision improved in all 33 eyes in the short-term postoperatively (4 weeks), but later deteriorated in 5 eyes (6.6%) of 4 patients (19%). The remainder maintained improved vision for the duration of the follow-up period (mean 22, range 3-54 months). Proptosis decreased by a mean 5.0 mm (range 1-8). Extraocular muscle imbalance and diplopia worsened in 9 21 patients (43%) and improved in 2 21 (9.5%). The patients having medial wall and floor decompressed all had worse diplopia (5 5 ), those with medial and lateral wall worsened in 4 10 cases and improved in 1 10 , and those having all three walls decompressed had no cases of worsening diplopia and 1 6 improved. All patients with symptomatic diplopia achieved binocular single vision in a useful range after one and sometimes two squint procedures. No patient lost vision as a result of the extracranial orbital decompression, but one lost vision in one eye after transfrontal decompression following failed extracranial decompression. Extracranial orbital decompression is effective in improving vision and reducing proptosis in most patients with optic neuropathy in Graves' eye disease, but induces or worsens diplopia in a high proportion of patients. The diplopia is readily correctable, and the change to decompressions that include the lateral wall may reduce the risk of postoperative diplopia.

Orbital neurilemmoma: report of seven cases.

Neurilemmoma (schwannoma) has a predilection for the head and neck, especially the eighth cranial nerve in the cerebellopontine angle. It rarely occurs in the orbit, representing only 1% of orbital tumours. We report seven cases. The nerve of origin was identifiable in four cases. Two occurred within the inferior oblique muscle. Five were treated successfully by anterior or lateral orbitotomy without craniotomy and two required a combined cranio-orbitotomy. The majority of orbital neurilemmomas occur as discrete intraorbital lesions without intracranial extension and can be safely removed via orbitotomy alone.

Early division of the conjunctival pedicle in modified Hughes repair of the lower eyelid.

BACKGROUND AND OBJECTIVE: The modified Hughes repair of the lower eyelid (upper lid tarsoconjunctival flap and skin graft or flap) after resection of marginal lesions has an established place in oculoplastic surgery. Previous recommendations for the timing of the division of the conjunctival pedicle have varied greatly from 3 weeks to 6 months. This study was performed to determine the safety of division of the pedicle at 2 weeks. PATIENTS AND METHODS: A series of 25 patients in whom the tarsoconjunctival pedicle in a modified Hughes repair of the lower eyelid was divided at 2 weeks were prospectively evaluated. All cases had a full-thickness skin graft placed as an anterior lamella of the reconstructed eyelid. RESULTS: In all cases there was a healthy and viable lower lid with brisk bleeding from the newly created lid margin at the time of pedicle division. There were no instances of infarction of any portion of the reconstruction, shrinkage, or retraction of the lower lid. CONCLUSION: Two weeks is a long enough time to wait prior to division of the conjunctival pedicle in the modified Hughes repair of the lower eyelid.

An alternative method of closed silicone intubation of the lacrimal system.

An alternative method of closed lacrimal intubation is described, the basis of which is to place the end of a piece of silicone tubing over the end of a small-diameter metal introducer, stretch the silicone tubing back along the introducer, and then pass the introducer together with the tubing through the lacrimal system into the nasal cavity. The tubing is visualized in the inferior meatus, from where it is retrieved, and then the introducer is withdrawn. The other end of the tubing is passed in a similar fashion. The technique is easily mastered, inexpensive, and less traumatic than other described techniques.

Malignant melanoma of the lacrimal sac complicating primary acquired melanosis of the conjunctiva.

An 81-year-old woman with primary acquired melanosis of the conjunctiva had multinodular invasive malignant melanoma, with one nodule engulfing the superior lacrimal punctum. At exenteration, the lacrimal sac was noted to be involved with melanoma, and an en bloc resection of the orbital contents along with the medial orbital wall and the medial wall of the maxillary antrum was performed to excise the lacrimal drainage apparatus. In situ melanoma was found in the superior canaliculus with invasive melanoma in the lacrimal sac. In situ melanoma was also found in the ductules of the lacrimal gland and the accessory lacrimal glands of the fornix. The patient died 8 months later of metastatic melanoma. The involvement of the lacrimal drainage apparatus by primary acquired melanosis or in situ melanoma makes clinical monitoring and management difficult.