Erdheim-Chester Disease: Two cases from an ophthalmic perspective.

PURPOSE: We report two patients who presented initially to ophthalmology clinics with symptoms and signs of orbital inflammation that led to a diagnosis of Erdheim-Chester Disease (ECD). OBSERVATIONS: ECD is a rare form of non-Langerhans cell histiocytosis (LCH) which is characterised by multi-system organ involvement and poor prognosis with standard therapies. Both patients were positive for the BRAF V600E mutation on genetic testing and were treated with the BRAF inhibitors Vemurafenib and Dabrafenib respectively. These cases highlight the variable clinical presentation and course of ECD, the classical radiological and histopathological findings, and the high degree of clinical suspicion necessary to reach this diagnosis. CONCLUSIONS AND IMPORTANCE: The combination of xanthelasma and bilateral, diffuse intraconal orbital masses must suggest to the clinician the possibility of ECD; and consideration to arrange further investigation with a full body CT or FDG PET/CT scan should be given, even in the absence of wider systemic symptoms or signs. With the advent of targeted therapies such as BRAF inhibitors, it is of even more importance that a diagnosis of ECD is established in a timely manner in order to give these patients the best chance of reduced morbidity and increased survival.

The Prevalence of Lower Eyelid Fornix Fat Prolapse: A Diagnostic Measure of Involutional Entropion.

PURPOSE: In our experience, lower lid involutional entropion is commonly associated with inferior fornix fat prolapse and non-eversion of the tarsal plate. We aimed to assess the prevalence of this sign as an early diagnostic indicator of lower lid involutional entropion in symptomatic and control groups. METHODS: Prospective, comparative, observational case series. Fornix fat prolapse and failure of tarsal eversion in patients with involutional entropion were studied. Fornix fat prolapse was assessed by pulling the lower lid margin to the inferior orbital rim and comparing the meniscus of the protruding fat. The absence of tarsal eversion and lid laxity were also assessed. Patients were reassessed following correction using radiofrequency entropion surgery. RESULTS: Sixty eyes of 50 Caucasian patients with involutional entropion underwent entropion correction. Fornix fat prolapse was found preoperatively in 83.3% (50 eyes), with complete reversal of fat prolapse in 76% (38 eyes) over a mean follow-up of 18.9 months, after successful surgery (P < 0.01). None of the 100 eyes (50 patients) in the control group showed fornix fat prolapse or absence of lower lid tarsal eversion (P < 0.01). CONCLUSION: There is high prevalence of fornix fat prolapse and failure of tarsal eversion (BB sign) in involutional entropion, with reversal after successful eyelid surgery. The absence of fornix fat prolapse in normal controls suggests that this is an important, underlying anatomical etiology, with diagnostic and prognostic value.

Monocular Diplopia and Nondisplaced Inferior Rectus Muscle on Computed Tomography in a Pediatric Pure Orbital-Floor Fracture.

Trapdoor fractures are common in children because of elastic nature of the pediatric bone. Clinical signs and radiological evidence in these cases may be minimal.This study involves a 14-year-old girl who sustained blunt trauma to her left eye. Initial investigation, for pure orbital floor fracture included computerized tomography (CT scan) of the orbit, did not show any evidence of incarcerated rectus muscle. She had no limitation of extraocular movements nor enophthalmos. Following conservative treatment, she had a left persistent orbital pain and left monocular diplopia. This prompted a magnetic resonance imaging (MRI) of the orbit investigating soft tissue, which found fine partial muscle herniation through the self-sealed fracture needing surgical intervention.Although an orbital CT imaging is preferrd, in this acute setting, magnetic resonance imaging should be considered to delineate the soft tissue anatomy in relation to a trapdoor fracture, especially when there are not cardinal associated physical symptoms with a trap door fracture such as restricted eye movement and enophthalmos. Mono-ocular diplopia can be noted as an associated symptom to prompt early surgical repair.

Safety of the use of xylometazoline nasal spray in young children undergoing lacrimal surgery: an observational study.

PURPOSE: It is common practice to prepare the nasal mucosa with decongestant in children undergoing lacrimal surgery. Xylometazoline 0.05% (Otrivine) nasal spray is commonly used. It has been reported to cause cardiovascular side effects. In the absence of formal guidelines on the safety of the use of nasal decongestants in children, we reviewed our practice to answer the question: How safe is preoperative use of xylometazoline in children undergoing lacrimal surgery? To our knowledge, this is the first study to address the potential side effects of the use of xylometazoline preoperatively in children undergoing lacrimal surgery. METHODS: This was a retrospective analysis of medical notes of children undergoing lacrimal surgery with the use of preoperative intranasal xylometazoline 0.05% over a 5-year period. RESULTS: Twenty-nine children, age 1-6 years (mean 3 years), underwent lacrimal surgery under general anesthesia with preoperative use of intranasal xylometazoline. Topical intranasal 1:10,000 adrenaline was used during surgery in all patients. All children were found to have uneventful surgery and recovery from anesthesia. CONCLUSIONS: Xylometazoline 0.05% intranasal use for prelacrimal surgery was found to be effective and safe. Addition of sympathomimetic topical adrenaline (1:10,000) did not impose any risks. The type of general anesthesia may influence the cardiovascular side effects anecdotally recorded during xylometazoline use.

Orbital Compartment Syndrome despite Significant Traumatic Expansion of the Orbital Cavity.

Periorbital injury can present with various permutations of bone trauma, soft-tissue edema, and hematomas that might involve proptosis and restricted motility. We report a case of a 32-year-old patient who sustained a traumatic orbital compartment syndrome simultaneously with a large, significantly displaced, orbital-floor blow-out fracture. Clinical signs consistent with both conditions were elicited. The initial management was as for orbital compartment syndrome. The clinical diagnosis was confirmed with computed tomographic imaging. This is an unusual and unexpected presentation. It would be expected that a hemorrhage would self-decompress in the presence of a large fracture. Physicians should be aware that such a combination of pathology might arise. Physicians likely to encounter periocular trauma should be prepared for its management: urgent lateral canthotomy and cantholysis. Differential diagnoses of periocular trauma are compared and contrasted.

Infraorbital Nerve Decompression for Infraorbital Neuralgia/Causalgia following Blowout Orbital Fractures: A Case Series.

The purpose of this study was to present the management of a series of patients referred with infraorbital nerve paraesthesia that developed after insignificant orbital floor fracture without diplopia or exophthalmos, and that did not require initial surgical repair. This is a retrospective interventional case series. The main outcome and measures were assessment of preoperative symptoms including neuralgia and sensory symptoms; review of periorbital computed tomography (CT) scans; and assessment of postoperative effects of surgery for infraorbital nerve decompression. Nine patients were identified who developed neuralgia affecting the infraorbital nerve distribution from a cohort of 79 patients who presented with orbital floor fracture. Six were female and three were male. Age range was 22 to 73 years with a mean of 48 years. Six patients were clinically depressed due to the chronic pain. In addition, two patients had dizziness on upgaze; one patient had blurring of central vision on eye movements; and one patient had mood swings. Reviews of CT scans revealed subtle disruption of the infraorbital canal in all cases. All nine patients underwent infraorbital nerve decompression. Abnormal adhesions between the nerve and its bony canal were found in five of nine cases. Follow-up ranged from 3 to 37 months (mean: 18 months). Following surgery, after a variable period of time ranging from 1 day to 3 months, all patients had resolution of their symptoms. Mean follow-up was 18 months. Reconstructive surgeons should be aware that infraorbital nerve neuralgia, secondary to disruption of the nerve in the distorted bony canal, may be another indication for surgical intervention following orbital floor trauma in selected cases, in addition to more traditionally accepted indications. Neuralgia and causalgia are probably more common than previously thought and symptoms should be actively sought in the patient's history or else risk being overlooked and inappropriately managed. Long-term follow-up of such patients is unlikely to be practical. Patient and/or family practitioner education of possible sequelae may be one possible solution to detect this type of problem early. Nerve decompression, where indicated, may improve the patient's neuralgia and associated behavioral changes and quality of life. An optimal diagnostic and management algorithm is yet to be established.

Lacrimal Sac Mucoepidermoid Carcinoma with Metastases to the Cavernous Sinus Following Dacryocystorhinostomy Treated with Stereotactic Radiotherapy.

PURPOSE: We report a very good outcome in a 44-year-old woman in whom cancer was missed as the cause of nasolacrimal duct obstruction and dacryocystitis and which was deemed inoperable after spreading to the cavernous sinus. CASE REPORT: The patient was referred to our unit 12 months following uneventful right dacryocystorhinostomy for nasolacrimal duct obstruction. This had been complicated by the formation of a significant canthal swelling 6 months later, which had been excised at that time. The symptom of nasolacrimal duct obstruction and scar recurrence prompted the referral to our unit. Examination and biopsy confirmed a malignancy. Despite extensive surgery, including concurrent radical neck dissection and parotidectomy, within 6 months, her mucoepidermoid carcinoma was found to have spread to the cavernous sinus, restricting blood flow from the carotid and causing an abducens nerve palsy. Though deemed inoperable at first, Gamma Knife stereotactic radiosurgery was sought as treatment for her disease, resulting in a good outcome 4 years after surgery. CONCLUSION: Experience from this case suggests the importance of considering malignancy as a cause in young patients when presenting with nasolacrimal duct obstruction. In such cases, and perhaps for all patients, biopsy specimens should be submitted as many tumours are found incidentally at the time of dacryocystorhinostomy. Whilst the external approach to dacryocystorhinostomy may identify abnormal anatomy intraoperatively, prompting biopsy, this is less likely with an endonasal approach where osteotomy precedes sac visualisation. The endonasal approach may therefore be less appropriate in such cases where malignancy is suspected as osteotomy may aid in the spread.

Combined external and endonasal approach to fronto-ethmoidal mucocele involving the orbit.

PURPOSE: To present a technique to improve the surgical treatment of frontal sinus mucocele and its recurrence. METHODS: Nine procedures performed on eight patients by a team of ENT and Ophthalmic orbital surgeons. Data collected included patient demographics, surgical details, pathological findings and complications. The surgical technique involved an external approach via the upper eyelid skin crease combined with an internal approach with a rigid 4 mm endoscope described below. Following evacuation of the mucocele the sinus was anastomosed to nasal cavity with insertion of silicon stent. All patients had preoperative and postoperative CT scans of the orbit and paranasal sinuses. RESULT: There were nine operations on eight patients (six males, two female patients, mean age of 57.25: range, 15-71). Two patients had inverted papillomas. All patients presented with non-axial proptosis and diplopia. The mean follow up period was 38.7 months (range 11-99). The only intraoperative complication noted was a cerebrospinal fluid (CSF) leak in a patient with a post traumatic mucocele. Post-operative complications included lid scarring in 2 patients. One of the patients had a fistula overlying the affected sinus at presentation. Both patients underwent dermis fat grafting as a second stage procedure and responded well. One patient presented with asymptomatic superior oblique weakness that could be attributed to trauma to the superior oblique intra operatively. There was no case of recurrence of mucocele in our series. One of the inverted papillomas had an early recurrence (within 6 months) that required repeat surgery. CONCLUSION: Fronto nasal anastomosis restores the anatomy and reduces the chance of recurrence in our experience. The final cosmetic result is excellent and the patient's satisfaction is high.

Punctal function in lacrimal drainage: the 'pipette sign' and functional ectropion.

BACKGROUND: The aim was to assess the movements of the inferior punctum during blinking and discuss pertinent clinical applications. METHODS: This is a prospective, non-comparative observational case-series examining the function of inferior punctum during blinking using video recordings of the blinking action at the slitlamp with slow-motion analysis and comparison. RESULTS: In all 56 eyes of 28 patents, supero-medial movement of the lower punctum toward the medial canthus, together with a medially directed protrusion of the inferior punctum was noted. It was also noted that the punctum blanched during this projectile movement compared to the rest of the lid margin. Simultaneous posterior rotation of the punctum was also observed in 48 eyes (85.7 per cent; 23 right eyes and 25 left eyes), resulting in apposition of the punctum to the lacus lacrimalis. In eight eyes (14.3 per cent; five right eyes and three left) from six patients, co-existence of medial punctal ectropion led to failure of internal rotation of the punctum during blinking, even though punctal 'pipette formation' was preserved. These six patients all suffered from epiphora in the affected eyes. The presence of 'pipette' formation was calculated to have a sensitivity of 80 per cent and specificity of 100 per cent for punctal ectropion in our series. A two-tailed Fisher exact test showed that based on our 56 eyes, these results were statistically significant (p < 0.0001). CONCLUSIONS: The inferior punctum plays an active and important role in the drainage of tears by the mechanism of supero-medial movement and medially directed protrusion ('pipetting action'), failure of which contributes to epiphora. This is a highly specific sign and should be sought in the evaluation of epiphora, even in the absence of frank ectropion. In punctual stenosis where location of the punctal orifice is proving difficult, inducing the pipette sign will help in its identification.

Management of pure orbital floor fractures: a proposed protocol to prevent unnecessary or early surgery.

PURPOSE: To present a case series review of management of pure orbital floor fractures and propose a protocol. METHODS: A retrospective review of medical records and computed tomography (CT) scan findings was completed. Fractures were classified into either trap-door, floor-fracture with incarcerated tissue, or depressed floor-fragment fractures. Criteria for surgical success were: enophthalmos <1mm; no hypoglobus/hyperglobus; extra-ocular muscle restriction <5° in upgaze but normal in all other positions on Hess chart; and no diplopia other than in extreme upgaze (5°). RESULTS: A total of 79 patients with orbital floor fractures were identified. There were 6 trap-door type fractures, 42 floor fractures with incarcerated tissue, and 31 depressed floor-fragment type fractures. Thirty-six patients were managed conservatively (antibiotics and observation). In nine of these, surgery was avoided by adhering to our protocol of delayed repair. Forty-three had surgical intervention: 6 were trap-door-type, 18 had a floor fracture with incarcerated tissue and 19 were of the depressed floor-fragment variety. All trap-door fractures underwent early repair (6/43, 14%), the rest had delayed repair (37/43, 84%). Four of 6 trap-door fractures had a successful outcome (66.6%). All 18 fractures with incarcerated tissue underwent successful delayed repair. Seventeen of 19 patients with depressed floor-fragment fractures were treated successfully surgically. The follow-up ranged from 12-64 months. The overall success rate was 85.3%. CONCLUSION: Non-trap-door type of floor fractures can have a successful outcome with delayed repair. This can avoid unnecessary surgery in selected cases. A management protocol is proposed.

Inverted papillomas of the nasal and paranasal sinuses that involve the ocular/adnexal region.

PURPOSE: To review the management of inverted papillomas presenting to oculoplastic surgeons at three institutions and the outcomes of treatment. METHODS: A retrospective review of medical notes of patients presenting with inverted papillomas that invaded the orbit during a 7-year period. RESULTS: In total, six Caucasian patients were identified, the mean age at presentation was 63 years. The presenting features were nasal blockage, epiphora, proptosis and medial canthal mass. Four were classed as Stage IV and two as Stage III disease. The sites of origin were the lateral wall of the nose, frontal sinus, ethmoidal sinus and lacrimal system. The lesions were radiologically homogenous tumours with variable degrees of nose, paranasal sinuses and orbital involvement. Four out of six had foci of malignant transformation (two with carcinoma in situ and two with invasive squamous cell carcinoma). All were treated with surgical excision and three with adjunctive radiotherapy. One patient needed orbital exentration and subsequently died from complications of the tumour bleeding. CONCLUSION: Inverted papillomas that invade the orbit are likely to be malignant and locally aggressive tumours. Early and wide surgical excision provides the best chance of removal and minimises recurrence. Radiotherapy may be a useful adjunct. Following surgical intervention, all cases require long term observation to ensure tumour control.

Ethmoidal air cell schwannoma presented as a fronto-ethmoidal mucocele.

AIM: To report a rare case of a fronto-ethmoidal mucocele secondary to an ethmoidal schwannoma. To our knowledge this is the first reported case of an ethmoidal schwannoma, a tumour of the peripheral nerve sheath originating from an area not believed to contain peripheral nerves that has presented as a fronto-ethmoidal mucocele. CASE REPORT: Our patient is a 23-year-old male presented with a one-year history of progressive proptosis and vertical diplopia with restriction of upgaze. Orbital imaging demonstrated a mass in the right medial ethmoidal air cells extending to the frontal sinus and orbit, consistent with a mucocele. Patient underwent endonasal decompression of the right fronto-ethmoidal mucocele. Histology confirmed a schwannoma and repeat imaging post-operatively revealed residual mass originating from the ethmoidal air cells. A right upper eyelid skin crease approach anterior orbitotomy was performed to successfully excise the mass via the lamina papyracea. Post-operatively the patient's proptosis and diplopia resolved, with a full range of ocular movements. Post-operative imagining at 3 months did not show any residual tumour. COMMENT: Mucocele formation may be secondary to an underlying schwannoma obstructing the fronto-ethmoidal foramen. In such cases we recommend an open-sky technique for full visualisation and improved chance of total removal.

Stereolithographic models to guide orbital and oculoplastic surgery.

PURPOSE: This paper aims to highlight the potential of stereolithographic models (SLM) as a tool in orbital surgical planning, and provides four examples of their role in facilitating successful surgery. METHOD: Retrospective case series report. RESULTS: Case 1: SLM facilitated a successful orbital biopsy of a deep orbital mass by allowing several practice trucut biopsies. Case 2: Complex orbital fracture-repair was facilitated by using a SLM to demonstrate post-trauma and previous post-surgical-intervention bony anatomy. Case 3: Replication of accurate orbital anatomy in a case of severe socket contracture facilitated the selection of Branemark-implant placement sites to prevent inadvertent entry into the cranial cavity. Case 4: SLM prevented unnecessary surgical intervention. CONCLUSION: SLM are useful tools for pre-operative surgical planning, and have applications in selected complex orbital and oculoplastic cases.

Periorbital necrotizing fasciitis: outcomes using a CT-guided surgical debridement approach.

PURPOSE: The surgical management of necrotizing fasciitis usually involves early radical/wide and aggressive debridement of involved areas. We describe 5 cases of periorbital necrotizing fasciitis (NF), managed using a computed tomographic (CT)-guided approach to surgical debridement. METHODS: Retrospective case series review. RESULTS: Five patients (4 female, 1 male; age range 39-81) were treated for periorbital NF. The diagnosis was confirmed in all cases with blood cultures and wound swabs. All patients were managed medically by a surviving sepsis regimen. CT scans confirmed suprafascial infection and excluded orbital cellulitis. Four patients had minimal surgical debridement to the surface muscle. All patients survived. Four out of 5 patients underwent delayed reconstruction. CONCLUSIONS: Periorbital NF behaves differently from NF of other areas. CT-guided surgical debridement of the superficial muscle maximizes preservation of healthy tissue and facilitates reconstruction. Delayed reconstruction allows fibrosis to settle and good cosmetic and functional results are possible. However, NF remains potentially lethal and close observation and a flexible management plan are required.

Lid retraction following glaucoma filtering surgery: a case series and literature review.

PURPOSE: To describe 5 cases of lid retraction associated with large cystic glaucoma filtering blebs. METHODS: Retrospective case reports and literature review. RESULTS: All 5 patients had lid retraction due to glaucoma filtering blebs. Two were successfully managed surgically by graded blepharotomy with resolution of lid retraction and bleb dysesthesia symptoms. Three patients were managed symptomatically. CONCLUSIONS: Lid retraction due to cystic glaucoma blebs is an unusual entity and a diagnosis of exclusion. The exact pathogenesis of the condition is unclear. Conservative, medical and surgical interventions exist to manage the lid retraction and any associated bleb dysesthesia.

Langerhans cell histiocytosis mimicking preseptal cellulitis.

A 7-year-old girl presented with signs of preseptal cellulitis that initially responded to antibiotics but then relapsed. Computed tomography scan revealed a cystic lesion in the preseptal tissues with associated soft tissue swelling and lacrimal gland inflammation. Anterior orbitotomy revealed a hemorrhagic-appearing lesion extending from the preseptal tissues subperiosteally along the roof of the orbit. The lesion was excised and histopathology and immunohistochemical staining confirmed a diagnosis of Langerhans histiocytosis. Management of this condition depends on the extent of systemic involvement, with single bony lesions usually pursuing a benign course and often spontaneously regressing or resolving following biopsy. This case serves to highlight that an underlying cause for preseptal cellulitis should be sought and if there are relapses or inadequately resolving signs of preseptal cellulitis, then prompt investigation to rule out other causes is required.

Non-endoscopic endonasal dacryocystorhinostomy--technique, indications, and results.

PURPOSE: To describe the technique of non-endoscopic endonasal dacryocystorhinostomy (NEN-DCR), and its indications and results. MATERIALS AND METHODS: In a prospective, non-randomized interventional case series, all consecutive cases presenting with epiphora between 2004 and 2006 were enrolled. Adult patients were divided into three subgroups: chronic nasolacrimal duct obstruction (NLDO), NLDO with dacryocystitis (NLDO-DC), and recurrent NLDO with previous failed external DCR (REV-DCR). All procedures were performed by one surgeon (first author). An endonasal DCR was performed through a nasal speculum without the use of an endoscope. Success was measured by both improvement of the epiphora and patency of the lacrimal system during irrigation. RESULTS: Ninety-five patients (24 men, 71 women) underwent 99 NENDCR procedures; 54% of cases had NLDO, 32% had NLDO-DC, and 14% were REV-DCR. Mean duration of surgery was 30 minutes, and the average amount of intraoperative bleeding was 12 ml. After a minimum follow-up of 6 months, success was achieved in 96% of all patients, 94% in the NLDO group, 97% in the NLDO-DC group, and 92% in the REV-DCR group. The failure rate was 4% overall. Two patients failed from the NLDO group, one patient from the NLDO-DC group, and one patient from the REV-DCR group. No significant late complications were detected. CONCLUSION: The success rate of NEN-DCR compares favorably with external DCR. The technique is also useful in cases of NLDO-DC and DCR-REV.

Fornix fat prolapse as a sign for involutional entropion.

OBJECTIVE: To compare horizontal and vertical laxity of lower eyelids in patients with unilateral lower eyelid involutional entropion, introduce a reliable and common finding in involutional entropion, and review the literature. DESIGN: Prospective, comparative observational case series. PARTICIPANTS: Eighty patients with unilateral involutional entropion. METHODS: Horizontal laxity was measured by recording the distance between the globe and the lower eyelid margin when pulled anteriorly with the eye in primary position (digital subtraction test). Vertical laxity was gauged by recording lower lid excursion between extreme up- and downgaze. Forniceal preaponeurotic fat prolapse was assessed by pulling the lower lid margin to the level of the inferior orbital rim and comparing the meniscus of protruding fat in each fornix. Forniceal fat pad height of <2 mm was graded as grade 1, and that of >or=2 mm as grade 2. MAIN OUTCOME MEASURE: Fornix fat prolapse. RESULTS: There were 43 males and 37 females, with a mean age of 77.70 years (range, 57-93 years) (standard deviation, 7.79). There were 47 patients with right-sided and 33 with left-sided entropion. The range of horizontal lid laxity was between 7.5 and 11 mm. The amount of vertical laxity assessed by lower lid excursion between extreme up- and downgaze ranged from 2 to 5 mm. Comparison between the affected and nonaffected sides failed to show a statistical difference in horizontal or vertical laxity (0.19

Retained silicone sleeve as a cause of dacryocystorhinostomy failure.

Silicone sleeves are 1 method of stabilizing bicanalicular silicone intubation near the ostia during dacryocystorhinostomy surgery to prevent tube prolapse. Retained silicone sleeve following dacryocystorhinostomy is a rare and previously unreported complication that can occur despite endoscopic visualization during tube removal, particularly in narrow nasal passages. It is an easily reversible cause of dacryocystorhinostomy failure if identified.