A case of bilateral amyloidosis localized to extraocular muscles mimicking thyroid eye disease.

BACKGROUND: Amyloidosis is a rare condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs. While systemic amyloidosis has been well-documented, amyloid deposition in extraocular muscles is an exceptionally rare occurrence, with only 35 reported cases. This case report sheds light on the importance of considering amyloidosis in the differential diagnosis of patients presenting with proptosis and diplopia, which are often associated with thyroid eye disease. CASE PRESENTATION: A woman in her twenties sought medical attention due to a complaint of diplopia. Her ocular examination revealed almost normal findings except for exotropia and proptosis. Orbital magnetic resonance imaging displayed fusiform enlargement of nearly all eye muscles, a presentation typically observed in thyroid eye disease. However, despite corticosteroid therapy, her symptoms showed no improvement. Given the unusual lack of response to conventional treatment, and inhomogeneous enhancement of the muscle, an extraocular muscle biopsy was conducted. This biopsy yielded a unique finding-amyloid deposition within the muscle tissue. This discovery was particularly intriguing due to the extreme rarity of amyloidosis affecting extraocular muscles, with fewer than three dozen documented cases worldwide. CONCLUSION: This unique case underscores the critical need for a comprehensive approach to diagnosing patients with proptosis and diplopia. While these symptoms are commonly attributed to thyroid eye disease, it is essential to consider alternative diagnoses such as amyloidosis, especially when standard treatments fail to yield results. The discovery of amyloid deposition in the extraocular muscles, although exceedingly rare, emphasizes the significance of a thorough differential diagnosis. In conclusion, this case report highlights the importance of vigilance in clinical practice, encouraging ophthalmologists to explore less common diagnostic possibilities when faced with challenging cases. Further research and clinical investigation are warranted to better understand the mechanisms and potential treatments for amyloidosis affecting the extraocular muscles.

Unusual presentation of aneurysmal bone cyst (ABC) in children: pediatric intracranial osteosarcoma with secondary ABC.

A 13-year-old female patient presented with painless vision loss and proptosis for 18 months. Imaging findings were highly suggestive of a supraorbital aneurysmal bone cyst (ABC) for which she underwent complete surgical excision. Postoperatively, she developed left hemiparesis. Computed tomography angiography (CTA) revealed right complete internal carotid arterial (ICA) thrombosis. This was managed conservatively, and she improved in hemiparesis over the next 3 weeks. Histopathology report revealed osteosarcoma with secondary ABC, for which she was referred for radiotherapy. At 1.5 months follow-up, the patient's left lower limb power improved to 4 + /5. She was walking without support, and her left upper limb power was 4/5.

Dural sinus malformation presenting with proptosis: report and review of a rare entity.

Dural sinus malformation (DSM) is a rare vascular malformation characterized by the dilatation of a dural venous sinus with or without an anomalous jugular bulb. Its presentation with venous-reflux-related secondary proptosis is anecdotal, with only six such cases reported so far. We report a 17-month-old boy who presented with a progressive proptosis of the right eye secondary to a DSM of the transverse sinus and torcula. Following endovascular embolization of the arterio-venous fistula, complete thrombosis of the venous lake and improvement in proptosis was noted at 6-month follow-up. Prognosis of this rare malformation is variable and dependent on specific angio-architectural features.

Greater sphenoid wing reconstruction with 3D printed anatomical intracranial implant for a child with spheno-orbital encephalocele.

Sphenoid wing dysplasia is a characteristic finding in children with neurofibromatosis type 1 (NF1). Some of these children develop proptosis and vision loss secondary to the spheno-orbital encephalocele. A 6-year-old boy presented to us with complaints of painless progressive uni-ocular vision loss and progressive pulsatile proptosis. Imaging revealed spheno-orbital encephalocele into the orbit through the dysplastic posterior orbital wall. 3D printed customized implant was designed and placed to fit the defect. This prevented further herniation of the temporal lobe into the orbit, leading to reduction of proptosis and improvement in vision of the child.

Predictive factors of the postoperative proptosis recovery in surgery of spheno-orbital meningiomas.

OBJECTIVE: This study aimed to identify factors affecting proptosis recovery in spheno-orbital meningioma (SOM) surgery and assess functional and oncological outcomes. METHODS: Data from 32 consecutive SOM surgery cases (2002-2021) were analyzed. Clinical, radiological, operative, and oncological parameters were examined. Proptosis was assessed using the exophthalmos index (EI) on MRI or CT scans. Statistical analyses were performed to identify predictive factors for proptosis recovery. RESULTS: Proptosis improved in 75% of patients post-surgery (EI decreased from 1.28 ± 0.16 to 1.20 ± 0.13, p = 0.048). Patients with stable or worsened EI had higher body mass index (28.5 ± 7.9 vs. 24.1 ± 4.7, p = 0.18), Simpson grade (IV 75% vs. 65%, p = 0.24), and middle sphenoid wing epicenter involvement (63% vs. 38%, p = 0.12), but no significant factors were associated with unfavorable exophthalmos outcomes. The improvement group had higher en plaque morphology, infratemporal fossa invasion, and radiation treatment for cavernous sinus residual tumor (88% vs. 75%, p = 0.25; 51% vs. 25%, p = 0.42; 41% vs. 25%, p = 0.42, respectively), but without statistical significance. Visual acuity remained stable in 78%, improved in 13%, and worsened in 9% during follow-up. Surgery had a positive impact on preoperative oculomotor nerve dysfunction in 3 of 4 patients (75%). Postoperative oculomotor nerve dysfunction was observed in 25%, of which 75% fully recovered. This occurrence was significantly associated with irradiation of an orbital tumor residue (p = 0.04). New postoperative trigeminal hypoesthesia was observed in 47%, of which 73% recovered. All SOMs were classified as WHO grade 1, and complementary treatments achieved oncological control, requiring gamma-knife radiosurgery in 53% and standard radiotherapy in 6%. CONCLUSIONS: Surgery effectively improves proptosis in SOM, though complete resolution is rare. The absence of predictive factors suggests multifactorial causes, including body mass index and tumor resection grade. Postoperative oculomotor nerve dysfunction and trigeminal hypoesthesia are common but often recover. Gamma-knife radiosurgery maintains long-term oncological control for evolving tumor residue.

Sarcoid-like reaction of the orbit in diffuse large B-cell lymphoma.

Sarcoid-like reaction (SLR) has been reported in patients with solid tumor malignancies, lymphomas, and patients receiving immunotherapy. SLR is often incidentally found during positron emission tomography/computed tomography scans as hilar and/or mediastinal lymphadenopathy. SLR has also been found in the lung, spleen, bone marrow, and skin. Biopsy of these lesions shows noncaseating granulomas. When systemic criteria are not met for sarcoidosis, these noncaseating granulomas are termed SLR. We present the first case in the literature of a case of orbital SLR in a patient with concomitant diffuse large B-cell lymphoma and inverted papilloma of the maxillary sinus. This case highlights the importance of including malignancy in the differential for the presence of a noncaseating granuloma in the orbit.

A comparison of proptosis reduction with teprotumumab versus surgical decompression based on fat-to-muscle ratio in thyroid eye disease.

PURPOSE: To explore if orbital fat-to-muscle ratio (FMR) is predictive of whether surgical decompression or teprotumumab leads to greater proptosis reduction in thyroid eye disease (TED). METHODS: A single-center retrospective cohort study comparing surgical decompression with teprotumumab according to FMR. All TED patients completing an 8-dose course of teprotumumab between January 2020 and September 2022 and all patients undergoing bony orbital decompression from January 2017 to December 2019 were included. Subjects were excluded if they were <18 years, received both surgical decompression and teprotumumab, or lacked orbital imaging. The primary exposure variable was teprotumumab or surgical decompression. The secondary exposure variable was baseline FMR. The primary outcome measure was change in proptosis (mm). RESULTS: Thirty-eight patients, mean age 53.5 years (±11.4), were included in the teprotumumab group and 160 patients, mean age 48 years (±11.1), in the surgical group. Average proptosis reduction after teprotumumab and surgical decompression was 3 mm (±1.44) and 5 mm (±1.75), respectively. The FMR was stratified at the median of 1.80. In subjects with FMR < 1.80, teprotumumab showed equivalent proptosis reduction compared to surgical decompression, -0.33 mm (SE 1.32) p = .802. In subjects with FMR ≥ 1.80, surgical decompression led to significantly more proptosis reduction than teprotumumab, 3.01 mm (SE 0.54), p < .001. CONCLUSIONS: Baseline FMR can be used to counsel patients as to proptosis reduction with teprotumumab versus surgery. Subjects with low FMR obtain comparable proptosis reduction with teprotumumab or surgery, whereas high FMR is associated with more significant proptosis reduction following surgery over teprotumumab.

Change in upper eyelid position after teprotumumab treatment for thyroid eye disease.

PURPOSE: Despite the high prevalence, treatment challenges, and significant impact of eyelid retraction on vision and quality of life among patients with thyroid eye disease, the effects of teprotumumab on eyelid retraction are not fully understood. This study evaluated change in upper eyelid position after teprotumumab. METHODS: A retrospective study of all patients who completed eight teprotumumab infusions at one institution from January 1 2020 to December 31 2022. Primary outcome was change in upper eyelid position immediately after treatment and at most recent follow-up compared to pre-treatment. RESULTS: Among 234 eyes of 118 patients, average margin reflex distance-1 (MRD1) pre-treatment was 5.25 mm (range 0-10.0, SD 1.75), 4.66 mm (1.0-9.0, SD 1.32) immediately post-treatment (p < 0.001), and 4.50 mm (0-10.0, SD 1.52) at most recent follow-up (mean follow-up duration 10.60 months). In total, 136 (58.12%) eyes of 88 patients had MRD1 reduction immediately post-treatment, averaging 1.49 mm (0.5-5.0 mm, SD 0.97). Every 1-mm increase in pre-treatment MRD1 increased the odds of MRD1 reduction by 15.03% (CI 10.52-19.72, p < 0.001) and increased the reduction amount by 0.48 mm (CI 0.39-0.57, p < 0.001). Of 154 eyes of 78 patients with most recent follow-up, 107 (69.48%) eyes had stable or further improved retraction at most recent follow-up compared to immediately post-treatment. CONCLUSIONS: This study found a modest but significant reduction in MRD1 in approximately 60% of eyes, independent of proptosis change, which was sustained by most patients over longer-term follow-up. Higher pre-treatment MRD1 corresponded with greater improvement. These results suggest an overall mild benefit of teprotumumab for upper eyelid retraction.

Hypoglossal Canal Dural Arteriovenous Fistula: A Rare Cause of Ocular Proptosis.

It is exceedingly rare for dural arteriovenous fistulae (DAVFs) outside of the cavernous sinus to present with ophthalmological symptoms and signs. Hypoglossal canal DAVFs (HC-DAVFs) have only previously been reported as individual cases or small case series. Further, only an estimated 31% of HC-DAVFs present with ophthalmological findings. We report a noteworthy case of an HC-DAVF in a 74-year-old male who presented with proptosis, chemosis, and reduced visual acuity. He was treated endovascularly with liquid embolic filling. This report aims to highlight HC-DAVF as an important differential diagnosis for patients presenting with symptoms suggestive of arterialisation of the ophthalmic veins.

Secondary ocular hypertension due to tentorial dural arteriovenous fistula: a case report.

BACKGROUND: Tentorial dural arteriovenous fistulas (TDAVFs) are abnormal shunts between meningeal arteries and the intradural venous system located in the tentorial dura mater, which typically manifest with haemorrhage or progressive neurological disorders. TDAVFs with pure ocular presentation have been rarely reported. CASE PRESENTATIONS: The case of a 56-year-old man presented with unilateral eye redness, proptosis and elevated intraocular pressure was reported herein, which was caused by a TDAVF. The fistula was fed by the left posterior cerebral artery and posterior meningeal artery. The drainage was into the basal vein and internal cerebral veins, which led the arterial blood flow forward to the left superior ophthalmic vein directly. The redundant blood flow caused the rise of episcleral venous pressure, leading to the clinical presentations. Gamma knife radiosurgery was performed then considering the delicate vascular structure and its deep location. The corkscrew hyperaemia was gradually alleviated after the surgery, but the intraocular pressure remained elevated at follow-ups. CONCLUSION: Dural arteriovenous fistulas which are not directly connected to cavernous sinus could cause ocular presentations like proptosis, eye redness and ocular hypertension.

Intraosseous malignant peripheral nerve sheath tumor at the frontal bone in a child: a rare cause of proptosis.

We report a nine-year-old male having malignant peripheral nerve sheath tumor (MPNST) of the frontal bone, represented with a twelve-month history of ptosis and proptosis in his right eye and enlarged rapidly in the last three months. Except for slight numbness at his one-third of the right forehead, he had no neurological deficit. The patient's both eyes were having normal eye movements, and he had no visual acuity or field loss. After surgery, we observed the patient with no recurrence for 4 years.

A novel method of measuring proptosis with computed tomography.

BACKGROUND: Computed tomography (CT) can avoid interference factors and has been imported into some software to measure proptosis clinically as the golden standard. PURPOSE: To establish a new method for semi-automatically measuring the proptosis on CT and evaluate its accuracy and reproducibility. MATERIAL AND METHODS: A total of 50 orbital CT images were collected of healthy individuals, 25 patients with Graves ophthalmopathy (GO), and 25 patients with orbital fracture (OF). A new image processing software, MedrawHDC, was developed to semi-automatically measure the proptosis (MedrawHDC method). The classic radiological (CR) method (measuring proptosis with the software called Mimics) and MedrawHDC method were applied in all three groups (measured by observer S). Hertel's exophthalmometer (HE) method was also applied in the GO group. Moreover, two other observers were asked to measure the proptosis using MedrawHDC, to evaluate its reproducibility. RESULTS: The MedrawHDC method was highly consistent with the CR method in measuring proptosis (normal group: intraclass correlation coefficient [ICC] = 0.989; GO group: ICC = 0.979; OF group: ICC = 0.979). In the GO group, the value of proptosis measured by two radiological methods were consistent with that measured by the HE method (CR method: ICC = 0.703; MedrawHDC method: ICC = 0.697). Bland-Altman plots showed similar results. The measurements obtained by three observers were highly reproducible (ICC = 0.995). CONCLUSION: The newly established MedrawHDC method, with high accessibility, convenience, and repeatability, is reliable in assessing proptosis. It shows high potential for wide application, having clinical value for scientific evaluation of proptosis.

How I do it: micro-neurosurgical resection of spheno-orbital meningioma with customized orbit reconstruction technique.

BACKGROUND: Spheno-orbital meningioma (SOM) is a rare intracranial pathology with intraosseous hypertrophy and intraorbital extension. METHOD: We described a middle-aged female with SOM who was managed in a micro-neurosurgical manner. The titanium implant was customized and applied to rebuild the orbital wall to prevent postoperative enophthalmus. CONCLUSION: Despite technical demands, favorable cosmetic, and clinical outcomes without complications can be achieved by meticulous surgical technique following radical resection. CLINICAL TRIAL REGISTRATION: NA.

Differential effects of teprotumumab treatment based on fat-to-muscle ratio in patients with thyroid eye disease.

PURPOSE: To characterize the distribution of fat-to-muscle ratio (FMR) across patients with thyroid eye disease (TED) and to assess the association between FMR and therapeutic response to teprotumumab. METHODS: A retrospective cohort study of patients completing a full course of teprotumumab for TED between January 2020 and March 2022 at a single tertiary referral center. Patients without baseline orbital imaging were excluded. Quantitative analysis of FMR was performed by manual segmentation of patients' imaging using OsiriX software. The primary outcome measure was change in clinical measurement of proptosis. Linear regression modelled change in proptosis against FMR. Statistical significance was set at p < .05. RESULTS: Twenty-two patients (3 M:19F) were included with a mean age of 49.4 ± 15.5 years. The FMR ranged from 1.11 to 6.54, mean 3.15 ± 1.30. The data did not deviate from a normal distribution (Shapiro-Wilk test for normality, p = .18). Pre- and post-treatment average proptosis measurements were 21.72 ± 3.56 mm and 18.81 ± 3.07 mm, respectively. Univariable linear regression demonstrated a 0.78 ± 0.36 mm greater reduction in proptosis for every 1 unit decrease in FMR (p = .038). CONCLUSIONS: Contrary to the traditional dichotomous characterization of TED into type 1 and type 2 phenotypes, orbital FMR may represent a continuum of disease manifestation, more closely following a normal rather than bimodal distribution. Furthermore, pre-treatment FMR is associated with response to teprotumumab; those with lower FMR experiencing a greater reduction in proptosis. This has implications for patient selection and counselling regarding the expected treatment outcome.

Congenital opticmeningocele: diagnosis, treatment, and follow-up.

Congenital opticmeningoceles were recently described as intraorbital optic nerve cystic lesions, in which neural tissue is found to be part of the lining of the lesion. We describe the case of an eleven-month-old patient with a right opticmeningocele, followed through seven years. He presented with proptosis and hypotropia since birth and imaging exams disclosed an intraconal cystic lesion. A needle puncture revealed a fluid characteristic of cerebrospinal fluid. Surgical drainage performed through a lid crease approach resulted in recurrence of the proptosis. Surgical excision of the capsule finally was definitive, and pathology revealed an epithelial-lined capsule. Eight months after the capsule excision, a strabismus surgery was performed to improve the right hypotropia. Although visual prognosis of opticmeningoceles is poor, a good cosmetic result can be obtained with a multidisciplinary approach involving orbit and strabismus surgeons. The complete capsule excision is believed to be the preferable surgical option for permanently treating the proptosis once needle puncture and cyst drainage are associated with recurrence. The orbital access for approaching the lesion depends on the location of the cyst and should provide wide exposure to avoid new surgical procedures in young patients.

Rosai-Dorfman disease mimicking cavernous hemangioma: a case report.

A 31-year-old female presented to the clinic with a 2 year history of proptosis of the right eye. She was diagnosed with cavernous hemangioma during her initial ophthalmologic consult and was advised monitoring. However, after a considerable increase in proptosis, she underwent an excision biopsy of the right orbital mass. A diagnosis of Rosai Dorfman disease was made after the histopathology report revealed a fibrosclerotic tissue with histiocytic proliferation showing emperipolesis that is mixed with numerous small lymphocytes and plasma cells. Rosai Dorfman disease is a rare disease presenting with lymphadenopathy and sinus histiocytosis. Orbital involvement can be the principal manifestation with proptosis as the most common presentation. Resection of the orbital lesion helped in the resolution of the mild ophthalmic symptoms but since the disease has other systemic associations, a complete systemic workup should be done to monitor recurrence.

Congenital orbital fibrosis: report of two cases and review of literature.

A 7-year-old male child presented with complaints of lagophthalmos and lid retraction of the right eye since birth. Magnetic resonance imaging (MRI) showed diffuse thickening of right superior rectus and levator-palpebrae complex along with a hypointense, irregular, and ill-defined lesion in the adjoining fat abutting the lacrimal gland. Biopsy from the lesion showed diffuse orbital fibrosis. Another 3-year-old female child presented with complaints of her right eye appearing smaller and inability to move the right eye freely since birth. MRI showed thickening of right superior and medial recti with diffuse retrobulbar hypointense fibrotic strands. The findings were suggestive of orbital fibrosis. Congenital orbital fibrosis is an extremely rare orbital pathology with very few cases described in the literature. The most common clinical features are motility restriction, restrictive strabismus, upper lid retraction, enophthalmos, and proptosis. The diagnosis can be made on imaging but requires biopsy for confirmation. Management is mostly conservative in the form of refractive and amblyopia therapy.

Cushing's syndrome of the orbit: congestive orbitopathy and optic neuropathy associated with steroids.

A 56-year-old female with a history of chronic systemic steroid use for asthma control displayed orbital congestion, exophthalmos, a mild abduction deficit, and optic neuropathy. Laboratory workup was unrevealing. Neuroimaging showed increased orbital fat compartments, though the orbital fat was unremarkable on biopsy. The patient was diagnosed with iatrogenic Cushing's syndrome of the orbit and underwent orbital decompression. Early published literature declared this orbitopathy benign. However, newer cases describe more pathologic changes, suggesting the disease is diagnosed later and/or treatment is delayed.

Systemic follicular lymphoma in a patient with a history of thyroid eye disease: a case report.

The most common cause of both unilateral and bilateral proptosis in adults is thyroid eye disease (TED), and the diagnosis in typical cases is made without imaging. However, many other orbital diseases, including inflammatory, infectious, and neoplastic processes, can mimic the symptoms of thyroid eye disease, highlighting the importance of imaging and biopsy in challenging cases. There are limited reports in the literature of orbital lymphoma being diagnosed in patients with a history of thyroid eye disease. Here, we present the case of a patient with long-standing TED who developed new asymmetric proptosis and was subsequently diagnosed with systemic follicular lymphoma.

Evolution of asymmetric proptosis during the active phase of thyroid eye disease.

PURPOSE: To assess the evolution of proptosis asymmetry during the active phase of bilateral thyroid eye disease (TED). METHODS: A retrospective study was conducted on patients with bilateral, active TED. Patients were measured by a single observer, using Hertel exophthalmometry from the time of initial presentation, during the active phase of TED, to the stable phase, 24-months later. Asymmetric proptosis was defined as a >2 mm intra-orbital difference in Hertel measurements. RESULTS: Fifty-one patients were enrolled. Patients presented at a mean time of 1.1 ± 2.9 months following the onset of TED symptoms. Stability of TED was established at 15.7 ± 12.3 months. At initial presentation, 41% of patients demonstrated asymmetric proptosis. Upon reaching the stable phase, asymmetric proptosis persisted in only 22% of patients. A decline in the rate asymmetric proptosis was greatest within the first 3 months of the active phase. CONCLUSIONS: Asymmetric proptosis is common in the setting of early active TED and decreases by 50% when the stable phase is reached. Therefore, diagnostic imaging is not routinely required to exclude alternative pathology in the cases of asymmetric TED. Perhaps more importantly, this finding supports the surgical paradigm of stable phase, graded orbital decompression, performed when the ultimate globe positions are achieved to avoid late postoperative asymmetry, resulting from the unanticipated evolution of proptosis when surgery is performed during the active phase of TED.