Paediatric Orbital Juvenile Xanthogranuloma: A Case Series and Review of the Literature.

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 paediatric 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.

Merkel Cell Carcinoma Metastases To Caruncle With Orbital Extension: Report and Literature Review.

Merkel cell carcinoma (MCC) is an uncommon and aggressive skin cancer of neuroendocrine origin. The tumor usually presents with a locoregional spread and most frequently metastasizes to the skin, liver, bone, lung, and brain. Despite the orbit being a relatively common site of metastases, it has rarely been reported in patients with MCC. The authors present a case of biopsy-proven orbital metastatic MCC in an 86-year-old male who presented with a rapidly enlarging right caruncle/subconjunctival mass with orbital extension and a history of forearm MCC excision 3 years prior. There are only 3 reported cases of distant metastatic MCC to the orbit, all presenting as a mass originating from extraocular muscles; and no cases of caruncle involvement.

Corneal Neurotization for Neurotrophic Keratopathy: A Multicentre Experience.

PURPOSE: Corneal neurotization is an emerging technique that offers potential for visual rehabilitation in neurotrophic keratopathy. This study reports on a multicenter experience and outcomes for both direct and indirect methods of corneal neurotization. METHODS: Retrospective case series. Sixteen patients with neurotrophic keratopathy who underwent corneal neurotization across 5 centers in Australia and Israel were identified for inclusion. Corneal neurotization was performed via direct neurotization from the ipsilateral or contralateral supraorbital/supratrochlear nerve or by the use of an interpositional sural nerve graft. Change in corneal sensitivity (measured in millimeters by the Cochet-Bonnet aesthesiometer), visual acuity, and corneal health. RESULTS: Over a mean follow-up period of 31.3 months (range: 3 months-8 years), mean corneal sensitivity improved from 3.6 mm (range: 0-25 mm) to 25.3 mm (range: 0-57 mm). Visual acuity improved on average from 20/380 to 20/260. Twelve of 16 patients (75.0%) improved in at least 2 out of the 3 main outcome measures. Nine patients (56.3%) showed an improvement in visual acuity; 13 (81.3%) showed an improvement in average corneal sensitivity; and 11 (68.8%) showed an improvement in corneal health. There were no intraoperative or postoperative complications. CONCLUSIONS: Corneal neurotization is an emerging surgical treatment option for the management of neurotrophic keratopathy. With appropriate case selection, outcomes are favorable and complication rates are low, for a condition that is otherwise challenging to manage. Patients with severe neurotrophic keratopathy should be considered for this surgical treatment option.

Orbital apex syndrome in herpes zoster ophthalmicus clinical features, treatment and outcomes: a case series and literature review.

Orbital Apex Syndrome (OAS) complicating Herpes Zoster Ophthalmicus (HZO) is associated with significant visual impairment. We present four patients with HZO OAS, to highlight clinical features and outcomes in order to promote earlier recognition and management of this potentially sight-threatening complication. CT and MRI imaging findings included expansion and enhancement of extraocular muscles and intraconal fat and involvement of the orbital apex and cavernous sinus. All patients received systemic steroid and antiviral therapy, but a standardised dosage and duration of treatment remains to be defined. Final visual acuity and extraocular motility outcomes were variable.

Isolated Orbital Apex Mucocele: A Case Study and Literature Review.

Isolated orbital mucocele without connection between the mass and paranasal sinuses is extremely rare and poorly understood. Literature review of these cases are very few and present more anteriorly in the orbit. Here, the authors present a 33-year-old female with an isolated left orbital apex mucocele without direct communication with the adjacent paranasal sinuses and other vital orbital structures. Endoscopic sinus surgery with marsupialization was performed, and an orbital mucocele was confirmed on histopathology. Although uncommon, previously reported cases, including our patient have remained disease free of recurrence for at least 1 year post-operatively.

Recurrence Following Globe Sparing Excision for Basal Cell Carcinoma with Anterior Orbital Invasion.

PURPOSE: Globe-sparing excision for periocular basal cell carcinoma (BCC) with orbital invasion has evident benefits, but the ensuing morbidity and characteristics of recurrence are not well elucidated. This study aims to describe the extent of visual morbidity following globe-sparing excision, and the clinicoradiological characteristics of tumor recurrence. METHODS: Multicentre retrospective case series. RESULTS: Eight patients were identified for inclusion in this series. Time to recurrence following globe-sparing excision ranged from 3 to 12 years. Seven patients (87.5%) presented with recurrent disease originating from the medial canthus. Clinical features at presentation included contracture ( n =4, 50.0%), upper lid ptosis ( n =3, 37.5%), a palpable mass ( n =2, 25.0%), and hypoesthesia ( n =2, 25.0%). Radiologically, tumor recurrence was predominantly characterized by isointense signals on T1 and T2-weighted sequences ( n =5, 62.5%) with moderate contrast enhancement. The most common histologic subtype in recurrent tumors was a mixed nodular and infiltrative growth pattern ( n =5, 62.5%). Perineural invasion was a feature in four (50%) cases. Salvage therapy in the form of exenteration was performed in seven cases. Vismodegib and adjuvant radiotherapy were provided for one case with surgically unresectable tumor recurrence. CONCLUSIONS: Globe-sparing excision for invasive periocular BCC can be complicated by late recurrence that develops rapidly despite silent neuroimaging for years. Early clinical signs are subtle. High-risk features predictive of recurrence include medial canthus location, mixed histological subtypes, and perineural invasion. Patients with such characteristics require lifelong clinical and imaging surveillance following globe-sparing excision.

Aneurysmal Bone Cyst of the Orbit With USP6 Gene Rearrangement.

PURPOSE: Aneurysmal bone cyst (ABC) of the orbit is a very rare tumor, occurring mostly in the pediatric population, and can result in sight threatening complications and disfigurement. This review discusses previously reported cases with a focus on evolving treatment options and molecular genetics. METHODS: We report the youngest case of an orbital ABC with a confirmed gene fusion: a 17-month-old girl, with confirmed FGFR-UPS6 (Fibroblast Growth Factor Receptor 1-ubiquitin specific peptidase 6/tre-2). A literature search for relevant publications on the topic was performed via Medline and PubMed, with the appropriate data extracted. RESULTS: Thirty-two cases of orbital aneurysmal bone cyst were identified in the literature. Presentations are varied and can include pain, proptosis, decreased vision, and extraocular motility disturbance. Typical imaging and histopathology findings are discussed, in particular the usefulness of identifying USP6 gene arrangements. Treatment modalities are reviewed including surgery, embolization, and receptor activator of nuclear factor kappa-B ligand (RANKL) inhibitors. Recurrences can occur, usually within 2 years. CONCLUSIONS: Orbital ABC is a neoplasm that presents unique diagnostic and treatment challenges. Gene rearrangements can confirm primary ABC and rule out other underlying pathology. Disfigurement and sight threatening complications can occur due to both the disease process and with treatment. Outcomes may be improved with the use of systemic therapy.

Yolk sac tumours of the orbit and sinonasal tract.

PURPOSE: The aim of this study is to report two cases of paediatric Yolk sac tumours (YST) of the orbit and sinonasal tract, with a major review on the subject. METHODS: Two case reports along with a comprehensive retrospective literature review of all English language publications between 1974 and 2021 is presented. Literature review examined the demographics, clinical presentation and diagnostic and prognostic factors of extragonadal YSTs of the orbit and sinonasal tract. RESULTS: Orbit and sinuses are rare sites for YST, with only 25 paediatric cases reported in the literature. Extragonadal yolk sac tumours carry a significantly worse outcome than those localised to the gonads, with the 5-year survival of 66% and 81-89%, respectively. Our review found the median age of presentation to be 18 months (18 months for males and 24 months for females), and females are more commonly affected. The most common presentations were proptosis, facial swelling and ophthalmoplegia. Treatments and therefore outcomes varied in the cases due to the large time period. Of the cases reported in the last 10 years, all patients with data provided were alive and disease-free at follow-up. CONCLUSION: Sino-orbital yolk sac tumours are rare and have variable presentations, dependent on the extent of local invasion. Early diagnosis and treatment with multimodal therapy are paramount in having improved overall survival.

Minimally invasive, indirect corneal neurotization using an ipsilateral sural nerve graft for early neurotrophic keratopathy.

Purpose: Neurotrophic keratopathy is a degenerative disease characterized by damage to the corneal nerves leading to corneal hypoesthesia and anaesthesia. The resultant progressive visual deterioration is refractory to existing conventional treatment options. Corneal neurotization is a novel and effective surgical procedure that directly targets the underlying pathology of nerve loss by stimulating new corneal nerve growth. This study reports the outcomes and the pre- and postoperative in vivo confocal microscopy findings of the first published Australian case of indirect, minimally invasive, corneal neurotization using an ipsilateral sural nerve autograft. Observations: An 11-year-old boy developed corneal hypoesthesia in the left eye following surgical debulking of a cerebellopontine angle arachnoid cyst. He was diagnosed with Mackie Stage 1 neurotrophic keratopathy. Due to his hypoesthesia, he had developed recurrent microbial keratitis and corneal ulceration secondary to foreign bodies sustained during contact sports. At presentation, he reported photophobia and dry eye symptoms, corrected-distance visual acuity was 6/18, Cochet-Bonnet aesthesiometer demonstrated reduced corneal sensation (5-15mm), Schirmer's I test was 15mm, and in vivo confocal microscopy showed a complete absence of a subepithelial corneal plexus. He underwent indirect, minimally invasive, corneal neurotization using the ipsilateral supratrochlear nerve and a sural nerve autograft. Subjective improvement in corneal sensation was noticed by the patient at 2 months. Objective improvement, measured on Cochet-Bonnet aesthesiometer, was first observed at 6 months with steady stepwise improvement to 20-35mm at 21 months. Importantly, due to the increase in corneal sensation, the patient did not develop any further corneal complications. At 12 months, dry eye symptoms resolved and Schirmer's I test improved to 30mm. At 15 months, corrected-distance visual acuity improved to 6/5 and in vivo confocal microscopy demonstrated evidence of corneal reinnervation with nerves running through the subepithelial space surrounded by healthy and active keratocytes. Conclusions and importance: Corneal neurotization represents an exciting development in the armamentarium for the treatment of neurotrophic keratopathy and can be considered for younger patients with early-stage disease.

Orbital and Sinonasal Complications of Hydrogel Scleral Buckle: A Case Report.

The hydrogel scleral buckle is a hydrophilic implant that is characterized by progressive expansion and can present with secondary orbital changes. The authors present a unique case of hydrogel-induced erosion of the orbital roof into the frontal sinus, with formation of a sino-orbital communication that resulted in frontal sinusitis and adjacent cerebritis. The hydrogel material is radiologically characterized as a fluid-filled hypertense T2 mass with rim enhancement and peripheral calcification. Awareness of late orbital complications from the hydrogel material is important to distinguish this entity from other mimicking orbital pathologies.

Anatomy of the lateral orbital wall: A topographic investigation for identification of the lateral canthal attachment.

BACKGROUND: There is a growing effort to develop implantable bionics for restoring eye closure in paralytic lagophthalmos. Knowledge of the natural eyelid attachments is important for active implants that mobilise these attachments or replace them with a sling. Whitnall's tubercle (WT) is traditionally used to identify lateral canthal attachments; however, it is not always present. This study seeks an alternative means of identifying the insertion of the lateral canthus to aid the application of bionic implants. METHODS: Complete CT head scans of patients in the Sydney Head and Neck Cancer Institute database were retrieved for analysis. The CT scans were segmented using bone and soft-tissue thresholding and then reconstructed. The location of WT and the lateral canthal insertion were recorded and their relation to key anatomical landmarks assessed. RESULTS: Ninety orbits from 45 complete head scans were analysed. WT could be identified bilaterally in 18/45 (40%) samples. The average distance from WT to zygomaticofrontal suture and to lateral orbital margin was 10.8 ±â€¯0.4 mm and 4.4 ±â€¯0.2 mm, respectively. The average height of the lateral canthal insertion from the Jugale point was 13.9 ±â€¯1.8 mm. On regression analysis, the height of lateral canthal insertion was strongly predicted by the height of lateral orbital wall as the determined by the maximum distance of the ZFS from the Jugale point (p = <0.001). CONCLUSION: In the absence of WT, the height of the lateral orbital wall can be reliability used to localise the insertion site of the lateral canthus.

Pediatric Subcutaneous Panniculitis-like T-cell Lymphoma of the Orbit.

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare and distinct subtype of peripheral T-cell lymphoma, representing <1% of all non-Hodgkin lymphomas. SPTCL usually arises in the fourth decade of life with multifocal involvement of the limbs and trunk. Orbital disease is uncommon. We present the youngest known case of orbital SPTCL in a 3-year-old child, where the diagnosis was initially confounded by a lower eyelid mass masquerading as preseptal cellulitis. MRI revealed a poorly defined anterior orbital mass. Immunophenotyping and histological analysis of an orbital biopsy specimen confirmed SPTCL, which was managed by the pediatric oncology team with multiagent chemotherapy. This case is unique due to the young age of presentation and primary orbital involvement. Nonresolving or atypical periorbital cellulitis needs to be investigated, as malignancy can mimic such conditions.

Implantation and long-term assessment of the stability and biocompatibility of a novel 98 channel suprachoroidal visual prosthesis in sheep.

Severe visual impairment can result from retinal degenerative diseases such as retinitis pigmentosa, which lead to photoreceptor cell death. These pathologies result in extensive neural and glial remodelling, with survival of excitable retinal neurons that can be electrically stimulated to elicit visual percepts and restore a form of useful vision. The Phoenix99 Bionic Eye is a fully implantable visual prosthesis, designed to stimulate the retina from the suprachoroidal space. In the current study, nine passive devices were implanted in an ovine model from two days to three months. The impact of the intervention and implant stability were assessed using indirect ophthalmoscopy, infrared imaging, and optical coherence tomography to establish the safety profile of the surgery and the device. The biocompatibility of the device was evaluated using histopathological analysis of the tissue surrounding the electrode array, with a focus on the health of the retinal cells required to convey signals to the brain. Appropriate stability of the electrode array was demonstrated, and histological analysis shows that the fibrotic and inflammatory response to the array was mild. Promising evidence of the safety and potential of the Phoenix99 Bionic Eye to restore a sense of vision to the severely visually impaired was obtained.

IgG4-related disease of the orbit in an infant.

IgG4-related disease is a chronic fibroinflammatory disorder that is becoming increasingly recognized in the pediatric population. The orbit is one of the most commonly affected sites. We present the youngest case of IgG4-related ophthalmic disease in the literature, with an immunodeficiency phenotype associated with a homozygous IRAK-4 variant gene. We also review the clinical and histological features in children with IgG4-related ophthalmic disease. In addition to the young age of presentation, the case is unique for absence of lacrimal gland involvement, dural enhancement on magnetic resonance imaging, and an association with an IRAK-4 deficiency phenotype. Management required a multidisciplinary approach, with judicious use of immunosuppression. IgG4-related ophthalmic disease should be considered as a differential diagnosis in infants and children presenting with an orbital mass. Further, a particularly young age of onset may indicate an overarching immune dysregulation syndrome.

Safety and biocompatibility of a bionic eye: Imaging, intraocular pressure, and histology data.

The data presented here are related and supplementary data to the research article "Implantation and long-term assessment of the stability and biocompatibility of a novel 98 channel suprachoroidal visual prosthesis in sheep" [1]. In Eggenberger et al., nine sheep of the Suffolk (N=2) and Dorper (N=7) breeds were implanted in the left eye with an electrically inactive, suprachoroidal retinal stimulator (Bionic Eye) for durations of up to 100 days. The surgical safety, implant stability and device biocompatibility were assessed. Intraocular pressure measurements, indirect and infrared ophthalmoscopy and optical coherence tomography were performed at fixed time points to evaluate the clinical effects of the surgery and device implantation. Post-mortem eye tissue collection and histology was performed to measure the effects of the intervention at the cellular level. The data, including a comprehensive collection of fundus, infrared, optical coherence tomography and histology images can be used as a reference for comparison with other research, for example, active retinal stimulators. Furthermore, these data can be used to evaluate the suitability of the sheep model, in particular Dorper sheep, for future research.

Cavernous sinus embolisation prior to removal of penetrating foreign body in a 6-year-old child.

Transorbital penetrating foreign bodies are extremely rare in children and may penetrate the cavernous sinus or the underlying internal carotid artery. Parent vessel sacrifice and temporary balloon occlusion are feasible options for managing arterial injury during removal of the foreign body. Even in the absence of arterial injury, the ophthalmologist may encounter significant bleeding from the cavernous sinus deep in their operative field that is difficult to control. We present a case of a 6-year-old child with a stick penetrating the left superior orbit to enter the cavernous sinus but sparing the internal carotid artery. We describe the first reported experience of prophylactic coil embolisation of the cavernous sinus to minimise intraoperative bleeding during transorbital removal of a foreign body with an excellent clinical outcome.

Panophthalmitis and Orbital Inflammation with Cavernous Sinus Thrombosis Following Cataract Surgery.

BACKGROUND: Panophthalmitis is a severe inflammation of the globe that can result as a rare complication of ophthalmic surgery. In severe cases, it may also be associated with orbital inflammation and cavernous sinus thrombosis. PURPOSE: This case demonstrates a rare and life-threatening post-operative complication of cataract surgery. We also hope to highlight the importance of considering the relevant risk factors associated with developing potential infections after cataract surgery, including the use of corneal sutures, high-risk behaviours such as excessive eye-rubbing, and non-compliance with appointments and post-operative medications. CASE REPORT: We report the case of a 35-year-old female with severe autism and developmental delay who developed panophthalmitis, orbital inflammation and cavernous sinus thrombosis 6 weeks post cataract surgery. The likely cause was corneal suture-related microbial keratitis, and the patient required enucleation due to sepsis. CONCLUSION: Post-surgical panophalmitis is a rapidly progressive disease that is not only sight- but life-threatening and demands urgent and intensive treatment. Consideration of early enucleation may be required to prevent deterioration in such patients.