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.

Graves' disease thyroid dermopathy: a case report.

BACKGROUND: Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy. CASE PRESENTATION: An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves' disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules. CONCLUSION: This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient's atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement.

Efficacy of tocilizumab in patients with moderate-to-severe corticosteroid-resistant thyroid eye disease: a prospective study.

PURPOSE: To evaluate the clinical outcomes of intravenous tocilizumab (TCZ) injection in patients with moderate-to-severe active thyroid eye disease (TED). METHODS: Patients with active and moderate-to-severe TED who did not respond to conventional therapies were treated with TCZ from June 2019 to January 2021. The medical records of the patients were evaluated before the treatment. We analyzed patient demographics, including the duration of Graves' disease and TED, and assessed subjective symptoms, such as diplopia and ocular movement, clinical activity score (CAS), modified NOSPECS score, and exophthalmos before treatment and at 4, 8, 12, and 16 weeks after the first drug injection. Blood tests, including TSH Rc Ab and TS Ab, were performed before treatment and 24 weeks after the first injection. And orbital computed tomography (CT) was performed and Barrett's Index was calculated at baseline and after completion of all injections. RESULTS: Nineteen completed the scheduled treatment. There were no significant side effects, other than herpes zoster in one case and headache and dermatitis in another. Clinical symptoms before and 16 weeks after the treatment showed mean CAS decreased by 2.4 points, mean modified NOSPECS score decreased by 3.7 points, and mean exophthalmos decreased by 0.4 mm. Diplopia and extraocular muscle limitation improved in ten and remained stationary in five of the 15 patients, who presented with extraocular motility abnormalities. Six of 11 patients who underwent orbit CT showed improvement in muscle size. The mean TSH Rc Ab decreased by 7.5 IU/L and TS-Ab decreased by 162.9%. CONCLUSION: TCZ can treat active moderate-to-severe TED, showing high drug compliance and reasonable response to inflammation and extraocular motility abnormality.

Leiomioma orbitario gigante en un paciente pediátrico: reto diagnóstico y terapéutico / Giant orbital leiomyoma in a pediatric patient: Diagnostic and therapeutic challenge

Este manuscrito presenta un caso de un leiomioma orbitario de larga evolución en un joven de 14años. El tumor era inusualmente grande y causaba una proptosis severa y una afectación importante de la musculatura ocular. El paciente presentaba amaurosis, una oftalmoplejía completa, dolor ocular espontáneo e incapacidad para cerrar los párpados. Debido al tamaño del tumor y a su progresión, se realizó una exenteración orbitaria derecha para eliminar todo el contenido orbitario, incluyendo el tumor y el globo ocular. El procedimiento quirúrgico tenía como objetivo prevenir la recurrencia del tumor y mejorar la calidad de vida del paciente. El análisis histopatológico confirmó el diagnóstico de leiomioma orbitario. Este caso presenta un interés particular por el grado de evolución que ha alcanzado. La extirpación completa del tumor y un seguimiento a largo plazo son necesarios para prevenir la recurrencia y garantizar resultados óptimos para el paciente. Además, este caso refleja las grandes diferencias en el acceso a la sanidad en las diferentes regiones del mundo. (AU)

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings. (AU)

Skeletal expansion via craniofacial distraction osteogenesis technique in syndromic craniosynostosis: impact on ophthalmic parameters.

BACKGROUND: This study aims to compare the changes in ophthalmic parameters among syndromic craniosynostosis patients who underwent craniofacial skeletal expansion procedures via distraction osteogenesis (DO). METHOD: A retrospective study was conducted involving syndromic craniosynostosis patients who underwent surgical expansion via the DO technique from the year 2012 to March 2022. Changes in six parameters which consist of visual acuity, refractive error, optic disc health, intraocular pressure, degree of proptosis and orbital volume were measured objectively pre and post-surgery. For categorical parameters, the Chi-square cross-tab test was done. Paired sample T-test was used for normally distributed variables. Wilcoxon signed-rank test was used for non-normally distributed data. RESULTS: Visual impairment was present in 21.4% of eyes before surgery and increased to 28.5% post-surgery. Three patients had changes of refractive error post-surgery with one developed hypermetropia, another developed anisometropia and the last had improvement to no refractive error. Two patients had optic disc swelling which was resolved post-surgery. Intraocular pressure changes were inconsistent post-surgery. All patients achieved a significant reduction in the degree of proptosis post-surgery. Orbital volume calculation using computed tomography (CT) scans shows a significant increase in volume post-surgery for all patients. CONCLUSION: Our study shows a significant increase in orbital volume post-surgery with a reduction in the degree of proptosis. Optic disc and nerve health improved after the surgery. Changes in terms of visual acuity, refractive error and IOP were inconsistent after the surgical intervention.

Ophthalmic manifestations of nasopharyngeal carcinoma (NPC): A systematic review of reported cases with and without prior history of nasopharyngeal carcinoma.

PURPOSE: We aimed to study reported cases of nasopharyngeal carcinoma presenting with ophthalmic manifestations with and without a prior diagnosis of nasopharyngeal carcinoma. METHODS: We conducted a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). A literature search was conducted using the MEDLINE database in PubMed and Google Scholar. We included patients with a previous diagnosis of nasopharyngeal carcinoma in Group I and those without a prior diagnosis of nasopharyngeal carcinoma in Group II. Data included demographics, clinical presentation, history of nasopharyngeal carcinoma, treatment, histopathological description, World Health Organization classification, and outcome. RESULTS: Fifty-eight patients (26 in Group I and 32 in Group II) were included. The male-to-female ratio was 3:1. The mean age of the patients (53.3 ± 11.7 years and 54.8 ± 16.2 years, respectively) and gender did not differ significantly between the two groups. The most common ocular presentations were diplopia and proptosis in the first group (each in 34.6%), whereas visual disturbance was most common in the second group (46.9%). Treatment options and World Health Organization grading were comparable. The outcome in 38 patients (after a comparable follow-up period) was significantly better in group II (p=0.003). There was no statistically significant difference in the outcome of 23 patients in correlation with World Health Organization grades II versus III irrespective of group (p=0.094). CONCLUSIONS: The demographics of patients with nasopharyngeal carcinoma presenting with ophthalmic manifestations were similar between the two study groups, with a wide age range and male predominance. Patients presenting initially to ophthalmologists with no history of nasopharyngeal carcinoma have a more favorable outcome. World Health Organization grading may have less value as a prognostic indicator.

Initial implementation of surgical guide design utilizing digital medicine for lateral orbital decompression surgery.

This study aimed to assess the feasibility of utilizing a surgical guide, designed through digital medical technology, in lateral orbital decompression surgery. METHODS: In total, 18 patients with thyroid-associated ophthalmopathy (TAO), who underwent orbital balance decompression surgery at the Affiliated Eye Hospital of Nanchang University between September 2018 and August 2022, were included. Orbital CT scanning was performed on all patients with TAO, and Mimics 21.0 software was used to reconstruct a three-dimensional model of the orbit based on the CT data. The osteotomy guide plate for lateral orbital decompression surgery was designed using 3-matic 13.0 software, adhering to the criteria of surgical effectiveness and safety. The surgical positioning guide was designed using Geomagic Wrap 21.0. Once printed, the surgical guide was sterilized with low-temperature plasma and applied during surgery. Of the nine patients treated using a surgical navigation system, three cases experienced cerebrospinal fluid leakage complications during the procedure, and two exhibited inadequate bone removal along the lateral wall. In contrast, among the nine patients treated with surgical guides, no intraoperative cerebrospinal fluid leakage or evidence of insufficient lateral wall bone removal was observed, highlighting a statistically significant distinction between the two cohorts (p = 0.046). Postoperative improvements were notable in best-corrected visual acuity (BCVA) and exophthalmos for patients afflicted with extremely severe TAO. The surgical guide, designed with digital medical technology, has been shown to be an effective and secure auxiliary tool in lateral orbital decompression surgery. It not only aids in reducing the incidence of intraoperative complications, but also enhances the accuracy and safety of surgery. These improvements offer robust support for continued exploration in this field within clinical practice.

Orbital infarction syndrome following mechanical thrombectomy in internal carotid artery occlusion: a case report.

BACKGROUND: Orbital ischemic syndrome is a rare entity. The clinical signs typically demonstrate acute loss of visual acuity, chemosis, proptosis, ptosis, and total ophthalmoparesis. We report a case of a man who suffered an acute internal carotid artery occlusion and developed orbital ischemic syndrome after a mechanical thrombectomy. CASE PRESENTATION: A 57-year-old Vietnamese (Kinh ethnicity) man was brought to the emergency room with complaints of a speech disturbance, facial palsy, and severe weakness of the left arm and leg, which had started 4 hours earlier, after waking up. The National Institutes of Health Stroke Scale 12 (NIHSS 12) revealed the neurological score at admission. A head computed tomography scan showed no intracranial bleeding and an Alberta Stroke Program Early Computed Tomography Score (ASPECTS) of 8 on the right brain. Computed tomography angiography showed an occlusion of the right internal carotid artery. After that, a mechanical thrombectomy was performed, and the internal carotid artery was completely reperfused. After 10 hours, he experienced orbital pain, proptosis, ptosis, chemosis, and ophthalmoplegia of the right orbit. He also had acute loss of visual acuity, and fundoscopic examination revealed papilledema, no retinal hemorrhage, and no bruit in orbital auscultation. Intraocular pressure in the right eye was measured at 50.5 mmHg. Computed tomography angiography showed no carotid-cavernous fistula, but slight enlargement of the right medial and lateral rectus muscles. He was treated with steroids and hyperosmolar agents and recovered 7 days later, but had persistent loss of visual acuity in the right eye. CONCLUSION: Orbital ischemic syndrome is a rare complication after mechanical thrombectomy treatment in acute ischemic stroke that can lead to loss of visual acuity.

Superior Ophthalmic Vein Thrombosis Associated With Asymptomatic COVID-19 Infection.

Superior ophthalmic vein thrombosis is a rare condition scarcely described in clinical literature with potentially severe consequences including permanent vision loss. This report details the case of a 70-year-old woman who presented with acute binocular horizontal diplopia, relative proptosis of the OD by 4 mm, and pain OD. On exam, visual acuity was 20/20 OD and 20/30 OS with full extraocular movements. CT revealed proptosis OD with a thrombosed superior ophthalmic varix. Evaluation for etiology of hypercoagulability was unremarkable, although the patient did have an asymptomatic COVID-19 infection 1 month prior. To the authors' knowledge, this is the first reported case of superior ophthalmic vein thrombosis secondary to an asymptomatic COVID-19 infection.

Giant orbital leiomyoma in a pediatric patient: diagnostic and therapeutic challenge.

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings.

Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection.

The host environment is of critical importance for antibiotic efficacy. By impacting bacterial machineries, stresses encountered by pathogens during infection promote the formation of phenotypic variants that are transiently insensitive to the action of antibiotics. It is assumed that these recalcitrant bacteria-termed persisters-contribute to antibiotic treatment failure and relapsing infections. Recently, we demonstrated that host reactive nitrogen species (RNS) transiently protect persisters against the action of ß-lactam antibiotics by delaying their regrowth within host cells. Here, we discovered that RNS intoxication of persisters also collaterally sensitizing them to fluoroquinolones during infection, explaining the higher efficiency of fluoroquinolones against intramacrophage Salmonella. By reducing bacterial respiration and the proton-motive force, RNS inactivate the AcrAB efflux machinery of persisters, facilitating the accumulation of fluoroquinolones intracellularly. Our work shows that target inactivity is not the sole reason for Salmonella persisters to withstand antibiotics during infection, with active efflux being a major contributor to survival. Thus, understanding how the host environment impacts persister physiology is critical to optimize antibiotics efficacy during infection.

A meta-analysis of the efficacy of two-wall orbital decompression operations for thyroid-associated ophthalmopathy.

BACKGROUND: The main treatment for the symptoms of proptosis and optic nerve compression caused by thyroid-associated ophthalmopathy is orbital decompression surgery. Medial inferior wall decompression and balanced decompression are two frequently used surgical procedures. However, there is no unified consensus on how to choose different surgical options for orbital decompression in clinical practice. AIMS: To compare the effects of medial inferior wall decompression and balanced decompression surgery through meta-analysis and to provide reference for clinical optimal decision making. METHODS: Databases, including PubMed, Web of Science, Ovid, Cochrane Library, and ClinicalTrials.gov, were searched for randomized controlled trials and cohort studies on decompression surgery for thyroid-associated ophthalmopathy published from inception to March 21, 2023. Using RevMan 5.3 software, a meta-analysis was conducted based on the following outcome indicators: proptosis, diplopia rate, intraocular pressure, visual acuity, and complication rate. RESULTS: Two randomized controlled trials and five cohort studies with a total of 377 patients were included in this analysis. After balanced decompression surgery, patients with thyroid-associated ophthalmopathy experienced a significant decrease in proptosis [MD = 4.92, 95% CI (4.26, 5.58), P < 0.0001]. Balanced decompression can improve postoperative visual acuity [MD = - 0.35, 95% CI (- 0.56, - 0.13), P = 0.001] and intraocular pressure [MD = 5.33, 95% CI (3.34, 7.32), P < 0.0001]. The rates of proptosis [MD = 0.33, 95% CI (- 1.80, 2.46), P = 0.76] and diplopia [OR = 1.20, 95% CI (0.38, 3.76), P = 0.76] did not differ between patients who underwent medial inferior wall decompression and those who underwent balanced decompression. CONCLUSION: Balanced decompression and medial inferior wall decompression are both effective options for surgical treatment of thyroid-associated ophthalmopathy in clinical practice.

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.

Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This is due to pathogenic variants in FAM20C characterized by osteosclerosis, typical craniofacial features, and brain calcifications. Here, we report a novel variant in FAM20C, describe a uniquely severe craniofacial and CNS phenotype of Raine syndrome, and correlate it with prenatal findings. Fetal phenotyping was based on ultrasound and MRI. Solo exome sequencing was performed from DNA extracted from postmortem skin biopsy. Targeted parental variant testing was subsequently performed. A homozygous missense variant NM_020223.4 (c.1445 G > A (p.Gly482Glu)) was identified in FAM20C associated with Raine syndrome. The infant had the characteristic dysmorphic features seen in Raine syndrome. He had particularly significant CNS manifestations consisting of multisuture craniosynostosis with protrusion of the brain parenchyma through fontanelles and cranial lacunae. Histological sections of the brain showed marked periventricular gliosis with regions of infarction, hemorrhage, and cavitation with global periventricular leukomalacia. Numerous dystrophic calcifications were diffusely present. Here, we demonstrate the identification of a novel variant in FAM20C in an infant with the characteristic features seen in Raine syndrome. The patient expands the characteristic phenotype of Raine syndrome to include a uniquely severe CNS phenotype, first identified on prenatal imaging.

Objective Diplopia Outcomes for Patients Treated With Teprotumumab for Thyroid Eye Disease.

BACKGROUND: Thyroid eye disease (TED) is a condition caused by inflammatory damage to the periocular tissue that often leads to double vision. Teprotumumab is an insulin-like growth factor 1 receptor antibody that was FDA approved for the management of TED in 2020, although much is yet to be elucidated regarding its effects on diplopia outcomes among patients with TED. Diplopia is a significant and life-altering effect of TED. Previous studies have reported the effect of teprotumumab on double vision subjectively using the Gorman diplopia score. However, there is a gap in the literature addressing the effect of teprotumumab treatment on objective ocular alignment measures. The purpose of our study was to address this gap. METHODS: We performed a retrospective review of patients who were diagnosed with TED, presented with diplopia, and treated with teprotumumab in a single-center academic ophthalmology practice. The primary outcome was change in ocular alignment in primary gaze position at 6 months (completion of teprotumumab treatment). Secondary outcomes included change in ocular alignment in other gaze positions, proptosis, eyelid position, and clinical activity score (CAS) at 6 months compared with baseline. To determine what factors may predict ocular alignment response to teprotumumab, we analyzed baseline characteristics among 3 groups, divided based on whether ocular alignment was worsened, stable, or improved at 6 months. RESULTS: Seventeen patients met inclusion criteria, 3 (18%) worsened, 10 (59%) were stable, and 4 (24%) improved. CAS ( P = 0.02) was significantly different among the groups and was higher in those who worsened and those who improved compared with those who remained stable. Right gaze horizontal prism deviation ( P = 0.01) and left gaze horizontal prism deviation ( P = 0.03) were significantly different among the groups, with a greater degree of left gaze horizontal prism deviation in the worse group than the stable group ( P = 0.04). CONCLUSIONS: Our study demonstrated that most patients remained stable after teprotumumab treatment regarding ocular alignment in primary gaze and the number of patients who improved was slightly higher than the number of patients who worsened after teprotumumab treatment. There are some baseline measures, such as CAS and right and left gaze horizontal prism deviation that can help better predict how a patient will respond to teprotumumab treatment. Our results can better inform physicians of how to counsel patients with TED when considering teprotumumab therapy.

Older Woman With Proptosis, Ptosis, and Blurred Vision.

A woman in her early 70s with a history of coronary artery disease, hypertension, and colon polyps presented to oculoplastic surgery with 1 week of progressive right-sided proptosis, headache, right eyelid ptosis, and blurry vision. Outside magnetic resonance imaging demonstrated an infiltrative mass involving right greater than left orbital apices, the right optic nerve, and right extraocular muscles. What would you do next?

Long-term outcomes of inferomedial orbital wall decompression in Graves' ophthalmopathy in an Asian population: A 30-year retrospective study.

PURPOSE: This study aims to evaluate the long-term outcomes of inferomedial orbital wall decompression (IMOD) in Graves' ophthalmopathy (GO). METHODS: A retrospective review of 422 eyes of 226 patients with GO-related cosmetically disfiguring proptosis (COS), dysthyroid optic neuropathy (DON), or exposure keratopathy (EXP) who received IMOD from 1989 to 2020 was conducted. Hertel value (HE) and corrected visual acuity (CVA) were evaluated at baseline and regularly thereafter. Proptosis recurrence, diplopia, and adjuvant surgeries were assessed. Complete success was defined as proptosis reduction over 2 mm without recurrence and improved diplopia. Partial success was defined as proptosis reduction without recurrence but with persistent or new-onset diplopia, and failure as proptosis recurrence. RESULTS: After follow-up for 40.1 ± 39.6 months (range, 6-239 months), 236 eyes (55.9%) achieved complete success, 175 eyes (41.5%) achieved partial success, and 11 eyes (2.6%) had failure. Significant CVA improvement was observed in both DON and COS groups (P < 0.001 and P = 0.045, respectively). Average proptosis reduction was 5.2 ± 2.2 mm, with a significant increase of 0.5 mm after long-term follow-up (P < 0.001). Incidence of proptosis recurrence was 2.6%. Surgical success rate of COS group was positively correlated with preoperative HE. CONCLUSION: IMOD demonstrated excellent success rate in all three subgroups with a low proptosis recurrence rate and improved visual outcome in both DON and COS groups. Delayed proptosis reduction effect of IMOD may result in delayed-onset asymmetry, especially in the unilateral group.

Successful Case of Teprotumumab Treatment in an Adolescent Patient With Thyroid Eye Disease.

A 16-year-old black female presented with a 4-month history of significant proptosis and diplopia in the setting of diagnosed Graves disease. The patient underwent 8 infusions of teprotumumab. She had migraines and diplopia that were resolved with treatment. There was also a dramatic improvement in her proptosis. The authors present the first reported case of successful teprotumumab treatment in an adolescent patient, describing outcomes and proposing a mechanism for her transient side effects.

Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature.

We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.

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 case of 'scorbutic proptosis'.

Proptosis is a frequent presenting symptom/sign of many paediatric malignancies. Acute-onset proptosis is an ophthalmic emergency that can endanger vision if not treated promptly. Appropriate treatment must be instituted only after investigating for the underlying aetiology. Here, we report a developmentally delayed boy in middle childhood who presented with recent onset bilateral proptosis. Clinical examination followed by radiological evaluation suggested scurvy to be the underlying cause and vitamin C supplementation led to prompt reversal of proptosis. The relevant literature has been reviewed and presented here to apprise the paediatric oncologists about this rare but easily treatable cause of proptosis.