Clinical Outcome and Technical Nuances After Resection of Orbital Cavernous Venous Malformations-A Single-Center Experience.

BACKGROUND: Cavernous venous malformations (CVMs) represent the most common benign intraorbital lesions. Enlarging or symptomatic CVMs (progressive proptosis or visual disturbances) are treated by surgical resection. For this, a variety of different surgical approaches have been described. The aim of this study was to present a contemporary series of orbital CVMs treated via open microsurgical approaches. METHODS: In this study, patients who underwent resection of orbital CVMs between 2002 and 2019 were included. Presenting symptoms were noted and neuro-ophthalmologic examinations performed pre- and postoperatively. For surgical resection, the location of the orbital CVM and its relation to the orbital anatomy led to decision-making for appropriate approaches. A comparison between anatomical location and surgical outcome was performed. RESULTS: Overall, 35 patients with orbital CVMs were included. Most common presenting symptoms were progressive proptosis (43%) and visual disturbances (34%). Most common location was the lateral quadrant (37%) followed by the superior quadrant (20%). A subfrontal craniotomy was performed in 40% of cases followed by a supraorbital craniotomy including the orbital rim in 34% of cases. For surgical excision, a cryo-probe was used in 30 patients, and complete resection was feasible in all cases. Location of a CVM within the superior quadrant was associated with improved postoperative recovery of visual acuity. No differences for clinical outcomes were observed depending on the surgical approach. CONCLUSIONS: Resection of orbital CVMs is indicated in patients with visual disturbances or progressive proptosis. In these, microsurgical approaches can be used with minimal morbidity for complete removal of these well-circumscribed lesions.

Orbital metastasis as presenting symptom from a prostatic adenocarcinoma.

PURPOSE: To report a 72-year-old man with orbital metastasis as presenting symptoms from a prostatic adenocarcinoma. METHODS: A complete ophthalmological evaluation with ultrasonography examination, kinetic perimetry, fluorescein angiography, and visually evoked potentials were performed. The patient underwent computed tomography, magnetic resonance imaging of the orbit, and blood test for confirmation of the diagnosis. Bone infiltration rate of the cancer was evaluated with bone scintigraphy. Type of the tumor was assessed with orbital incision biopsy and histological analysis. The patient received systemic chemotherapy. Due to poor patient compliance, radiotherapy was not performed. RESULTS: Ultrasonography showed a hypoechoic retrobulbar lesion. At computed tomography examination of the orbit an expansive oval intraconical solid lesion with enhancement after medium contrast was found. Biopsy findings revealed a moderately differentiated adenocarcinoma with immunohistochemical profile supporting prostate as the primary tumor site: negative for cytokeratin-7 and cytokeratin-20 and positive for prostate-specific antigen, prostate-specific acid phosphatase, and alpha-methylacyl-CoA-racemase. CONCLUSIONS: Ocular signs and symptoms as first clinical presentation of a prostate cancer are relatively rare. Despite its very poor prognosis, a correct management and therapy can improve visual acuity, ocular symptoms, and median survival of cancer patients.

Bilateral Orbital Soft-Tissue Metastases from Renal Neuroendocrine Tumor: Successful Theranostic Application of 68Ga/177Lu-DOTATATE with Improvement of Vision.

A gratifying clinical response obtained in the setting of bilateral orbital metastases from renal neuroendocrine tumor is reported. Methods: A 53-y-old man diagnosed with renal neuroendocrine tumor (MIB1 index, 4%), with symptoms of skeletal and abdominal pain, proptosis, and a decrease in vision of the left eye, was found to harbor bilateral orbital soft-tissue lesions on 68Ga-DOTATATE PET/CT and MRI in addition to widespread metastatic skeletal lesions and metastatic lymph nodal disease. Despite radiotherapy to the left eye (20 Gy) and long-acting octreotide therapy for 18 mo, his symptoms worsened, with an increase in serum chromogranin A level, and he was considered for 177Lu-DOTATATE peptide receptor radionuclide therapy (PRRT). Results: There was a significant improvement in skeletal pain, proptosis, and vision after 4 cycles of PRRT (cumulative dose of 22.2 GBq), stable disease on scanning, and a decrease in serum chromogranin A (from 150 to 36.39 ng/mL), with progression-free survival at 18 mo. Conclusion: PRRT through theranostic application of 68Ga/177Lu-DOTATATE was thus helpful in this uncommon clinical setting.

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 10 patients have been described with mutations in PRMT7. The shared findings include: hypotonia, intellectual disability, short stature, brachydactyly, and mild dysmorphic features. We describe the prenatal, postnatal, and pathological findings in two male sibs homozygote for a mutation in PRMT7. Both had intrauterine growth restriction involving mainly the long bones. In addition, eye tumor was found in the first patient, and nonspecific brain calcifications and a systemic venous anomaly in the second. The pregnancy of the first child was terminated and we describe the autopsy findings. The second child had postnatal growth restriction of prenatal onset, hypotonia, strabismus, sensorineural hearing loss, genitourinary and skeletal involvement, and global developmental delay. He had dysmorphic features that included frontal bossing, upslanting palpebral fissures, small nose with depressed nasal bridge, and pectus excavatum. Our patients provide additional clinical and pathological data and expand the phenotypic manifestations associated with PRMT7 homozygote/compound heterozygote mutations to include brain calcifications and delayed myelination, and congenital orbital tumor.

Trajectory-guided biopsy of orbital tumor - Technology, principal considerations and clinical implementation.

Intraorbital space-occupying lesions always pose a challenge, both in terms of definite surgical removal as well as preoperative sampling for histopathological examination. Despite the use of modern high-resolution imaging techniques, the dignity of orbital lesions can often not be determined with sufficient certainty preoperatively. As the amount and complexity of treatment possibilities continue to increase, detailed diagnostics in advance of treatment choice are essential. Histological classification of orbital lesions can still be considered the gold standard for reliable diagnoses, leading to appropriate treatment. Over recent years minimally invasive surgical approaches have gained more importance in the treatment and diagnosis of cranio-maxillo-facial tumor and trauma. The aim of our study was to adapt and establish a precise procedure for orbital biopsies. 23 patients suffering from space-occupying lesions of unknown dignity were included. Trajectory-guided procedures were pre-planned for all cases. In most cases minimally invasive procedures were suitable for taking biopsies of the orbit. For only two patients a conventional, non-minimally invasive, lateral orbitotomy had to be performed. Further evaluation of the presented procedure demonstrates clearly that trajectory-guided biopsies of the orbit can be performed correctly and effectively, regardless of the suspected lesion's size.

Nonleukemic granulocytic sarcoma of orbit after blunt trauma: A case report and review of literature.

RATIONALE: Granulocytic sarcoma without invasion of bone marrow or blood is very rare. The diagnosis of it is usually overlooked and the treatment has not reached a consensus. Meanwhile, the onset of this kind of disease is not clear. PATIENT CONCERNS: Diagnose patients in early stage and help choose the right treatment strategies. DIAGNOSES: The ultimate diagnosis was nonleukemic granulocytic sarcoma after blunt trauma. INTERVENTIONS: Surgery was the initial treatment option. Chemotherapy including idarubicin (70 mg, D1-D3) and cytosine arabinoside (100 mg, D1-D7) and radiotherapy of total 3,060 cGy were then administered but failed to control the disease. Hematopoietic stem cell transplantation was finally administered. OUTCOMES: No evidence of disease progression or spread according to the latest follow-up. LESSONS: The etiology of nonleukemic granulocytic still remains unclear, though trauma seems to be a potential predisposing factor and deserves more attention for early diagnosis and timely and proper treatment. Systemic chemotherapy is more effective than radiotherapy or surgery. Hematopoietic stem cell transplantation is an alternative choice after the failure of chemotherapy.

A Simple Quantitative Measure of Orbital Compliance.

PURPOSE: This study evaluates the reliability of a frequently used subjective measurement of orbital compliance (0-3 scale) and describes a simple, quantitative measure with excellent intra- and interrater reliability. METHODS: Two examiners performed both measurements on 100 orbits (50 consecutive patients) from the office of 1 oculoplastics surgeon. Each measurement was obtained at 2 different time points, 10 minutes apart. For the subjective measurement, the patient was asked to close their eyes, and the globe was displaced posteriorly with digital pressure until moderate resistance was felt. This was graded on a 0 to 3 scale. For the quantitative measurement (millimeter scale), the difference in axial displacement was measured using a Hertel exophthalmometer. RESULTS: The subjective measurement (scale, 0-3) showed excellent test-retest reliability (average, 0.901) for both examiners at both time points and good interobserver reliability (average, 0.677). The quantitative measurement (millimeter scale) showed excellent test-retest reliability (average, 0.848) and very good interobserver reliability (average, 0.756). CONCLUSION: This study shows that while both methods have both excellent test-retest reliability, the interobserver reliability is slightly higher with the quantitative measurement. This suggests that the described measurement of orbital compliance is both a reasonable alternative and possibly more accurate measurement without the steep learning curve.

Meibomian Gland Dysfunction Associated With Periocular Radiotherapy.

PURPOSE: To investigate the influence of periocular radiotherapy on meibomian glands. METHODS: We evaluated 28 patients (40 eyes) who received radiotherapy (RT group) for conjunctival or orbital lymphoma and 30 age-matched control subjects (60 eyes). Subjects underwent slit-lamp examination of the eyelids, Schirmer test, meibography, and evaluation of tear film breakup time (TBUT), Ocular Surface Disease Index (OSDI) scores, meibomian glands evaluation (meiboscore, meibum expressibility, and lid margin abnormality scores), and tear film lipid layer thickness using an ocular surface interferometer. These parameters were compared between subjects in the RT and control groups. RESULTS: Meiboscores as well as meibum expressibility and OSDI scores in the RT group were significantly higher compared with those in the control group (1.6 ± 0.9 vs. 0.4 ± 0.6, 1.6 ± 1.0 vs. 0.2 ± 0.4, and 48.1 ± 21.4 vs. 6.2 ± 4.4, respectively, P < 0.001, all), whereas the Schirmer value (9.2 ± 5.1 vs. 12.3 ± 5.2, P = 0.004), TBUT (4.2 ± 2.5 vs. 6.4 ± 2.6, P = 0.001), and lipid layer thickness (61.0 ± 29.3 vs. 85.2 ± 20.0, P < 0.001) in the RT group were lower compared with those in the control group. The percentage of meibomian gland dropout was significantly correlated with age (P = 0.025) and total radiation dose (P = 0.012), regardless of the target location of irradiation. Even low-dose irradiated eyes (<30 Gy) exhibited significantly higher meiboscores (P < 0.001) and shorter TBUT (P = 0.005) compared with control eyes. CONCLUSIONS: Eyes that received periocular radiotherapy exhibited relatively high tear film instability induced by meibomian gland dysfunction, contributing to the high severity of dry eye symptoms.

Visual outcomes and late complications in paediatric orbital rhabdomyosarcoma.

BACKGROUND: Orbital rhabdomyosarcoma is a rare but important malignancy for an ophthalmologist. We aimed to review the management and outcome, including late orbital complications and visual acuity over 25 years from a specialist paediatric ophthalmology department. DESIGN: This was a retrospective longitudinal case series. PARTICIPANTS: All patients presenting to our institution between December 1989 and December 2014 with a histopathological diagnosis of rhabdomyosarcoma originating from (primary) or invading into the orbit (paranasal) were included. METHODS: The oncology and ophthalmology databases were cross referenced to identify patients. MAIN OUTCOME MEASURES: Baseline demographics, chemotherapy, surgical and radiation dose, visual acuity, ocular and systemic complications, local and distant recurrence and mortality were recorded for each patient. Outcomes were reported with descriptive statistics. RESULTS: Eighteen patients were included. Median age was 4.3 years (range 4 months to 16 years) with average follow-up of 9 years. The 5-year disease-specific survival was 100% for the orbital group and 25% for the paranasal group; 29% of the orbital group maintained vision better than 6/12 in their treated eye, and the overall globe conservation rate was 71%. The most common ocular complications were cataract and keratopathy in both the orbital and paranasal groups. Other ocular complications included orbital hypoplasia or fat atrophy, eyelid malposition and lacrimal duct stenosis. CONCLUSIONS: Ophthalmic late effects are seen in a significant proportion of patients with orbital rhabdomyosarcoma. There is excellent survival in these patients, and continued efforts should be made to reduce the late effects of therapy.

Visual acuity and astigmatism in periocular infantile hemangiomas treated with oral beta-blocker versus intralesional corticosteroid injection.

BACKGROUND: Periocular infantile hemangiomas (PIH) can induce anisometropic astigmatism, a risk factor for amblyopia. Oral beta-blocker therapy has largely supplanted systemic or intralesional corticosteroids. The purpose of this study was to evaluate the effect and time course of these treatment modalities on visual acuity and induced astigmatism. METHODS: The medical records of patients with PIH treated with oral propanolol between November 2008 and July 2013 were retrospectively reviewed for data on visual acuity and astigmatism. Patients with incomplete pre- and post-treatment ophthalmic examinations were excluded. Results were compared to those of a similar cohort treated with intralesional corticosteroid injection. RESULTS: Mean astigmatism in affected eyes was 1.90 D before propranolol and 1.00 D after; patients showed a monophasic reduction in astigmatism over 12 months. By comparison, patients treated with corticosteroid injection showed a biphasic response, with an immediate steep decrease followed by a slow monophasic decline, paralleling propranolol-treated patients. Oral propranolol treatment caused a 47% reduction in mean induced astigmatism, less than the 63% reduction reported for the cohort treated with corticosteroid. No patient had visual acuity in the affected eye more than 1 standard devation below the age-matched norm, and none experienced significant side effects when treated with oral propranolol. CONCLUSIONS: In this patient cohort oral beta-blocker was well-tolerated. Treatment was therefore often initiated prior to the induction of significant astigmatism, with treatment effects comparable to steroid treatment. Visual outcomes were good. Early treatment may minimize the potential effect of astigmatism on postnatal visual development.

Long term follow-up of persistent choroidal folds and hyperopic shift after complete removal of a retrobulbar mass.

BACKGROUND: Hyperopic shift and chorioretinal folds are common findings with intraorbital masses compressing the posterior pole of the globe. These signs usually regress after complete tumour excision. To the best of our knowledge this is the first reported case, where optical coherence tomography was used to document persistent chorioretinal folds after complete excision of a retrobulbar mass. CASE PRESENTATION: A 47-year-old Caucasian woman was referred to our department with long-documented hyperopic shift and gradually decreasing vision in her left eye. Optical coherence tomography showed chorioretinal folds. Magnetic resonance imaging revealed a retrobulbar mass which caused flattening of the posterior pole of the globe. The tumour was successfully removed, and was confirmed to be a cavernous haemangioma on histological assessment. 3 years after surgery the patient still has a similar amount of hyperopia and chorioretinal folds. CONCLUSION: Choroidal folds and hyperopic shift may persist after complete tumour removal. Long term follow-up is advised to rule out recurrence of the intraorbital mass.

Potential correlation between menopausal status and the clinical course of orbital cavernous hemangiomas.

PURPOSE: To evaluate the clinical course of radiologically diagnosed orbital cavernous hemangiomas in the setting of presumed changes in estrogen/progesterone levels. METHODS: An institutional review board-approved retrospective cohort chart review of patients from January 1, 1983, to January 1, 2013, was undertaken searching both outpatient ophthalmology diagnoses and radiologic diagnoses, identifying 32 orbital cavernous hemangiomas, which were subsequently divided into group 1, presumed to have stable levels of estrogen/progesterone, and group 2, presumed to have decreasing levels of estrogen/progesterone. Patients were then categorized as having short-term, mid-range, or long-term follow up. Serial imaging studies were evaluated and graded as having increased, decreased, or remained stable in size. RESULTS: In group 1, no lesions decreased in size, 69% remained stable, and 31% increased in size. In group 2, no lesions increased in size, 45% remained stable, and 55% decreased in size. When evaluating only those patients with long-term follow up, many masses in group 1 increased in size, while the majority in group 2 decreased in size. CONCLUSIONS: In this study evaluating orbital cavernous hemangiomas over a span of 30 years, the authors found that in postmenopausal women with assumed decreasing levels of circulating estrogen/progesterone, the vast majority of lesions either remained stable or decreased in size, suggesting the effect of hormone levels on such vascular lesions and supporting the role for observation in asymptomatic individuals in this patient population.

Regression of a paraganglioma tumor of the orbit.

PURPOSE: To describe a clinical case of an orbital paraganglioma that displayed regression after biopsy alone. METHODS: Case report. RESULTS: A 75-year-old female was examined for a right orbital tumor suspected to be metastatic breast carcinoma. An orbital biopsy was performed with significant hemorrhage encountered requiring extensive cautery. There was apparent clinical regression of the tumor with no signs of proptosis or eye movement restriction two years after this patient's biopsy. Histology was consistent with paraganglioma (glomus tumor). CONCLUSION: Although we cannot rule out spontaneous regression of this unique tumor, we postulate that tissue necrosis caused by the use of cautery induced regression. Unless encapsulated and easily accessible, we suggest that the best management of this rare tumor is that of observation after being found negative for malignancy by biopsy given their propensity for slow progression and in rare cases, regression.

[Neurolaw: its relevance for forensic psychiatry]. / Neurolaw: de relevantie voor de forensische psychiatrie.

BACKGROUND: Neurolaw is a new interdisciplinary area of research which investigates, from different perspectives, the significance of the neurosciences for law. AIM: To clarify the relevance of neurolaw for forensic psychiatry. METHOD: The importance of neurolaw developments for forensic psychiatry was analysed on the basis of recent literature. RESULTS: Some of the developments in the field of neurolaw research concern issues that are currently evaluated by forensic psychiatrists, such as risk of recidivism and legal insanity. CONCLUSION: Developments in neurolaw are relevant for forensic psychiatry in a number of ways. An important problem, not yet resolved, is to what extent psychiatry will be prepared to help in shaping these developments.

[Giant cavernous hemangioma of the orbit (case report)].

The following case demonstrates a successful en bloc removal of a massive cavernous hemangioma of the orbit via vertical transpalpebral approach with postoperative improvement of optic nerve condition and optimal cosmetic result.

Quiste conjuntival epitelial gigante primario orbitario / Orbital giant conjunctival epithelial primary cyst

Caso clínico: Varón de 15 años de edad, sin antecedente traumático o quirúrgico, que presenta proptosis con desplazamiento inferior del globo ocular derecho de cuatro meses de evolución. La ecografia y la TAC muestran una lesión quística de 3,5 × 2cm. Se reseca mediante orbitotomía transconjuntival. La histopatología muestra un quiste con un epitelio no queratinizado sin células caliciformes. Después de 10 años de evolución no ha recidivado . Discusión: Los quistes epiteliales conjuntivales primarios son muy infrecuentes. Suelen ser de pequeño-moderado tamaño; los gigantes son excepcionales. El diagnóstico por imagen es fundamental para el diagnóstico diferencial y el tratamiento quirúrgico(AU)

Case report: A 15-year-old male, with no previous traumatic o surgical ocular injury, presented with a right eye proptosis and inferior displacement which began 4 months earlier. Ultrasound and CT showed a cystic lesion of 3.5 × 2cm in the superior orbit. Surgical resection was performed by transconjunctival orbitotomy. The histopathology examination showed a cyst with nonkeratinized epithelium, and without goblet cells. After 10 years of follow-up, there have been no new lesions. Discussion: Conjunctival primary orbital cysts are very uncommon. They are usually of small-moderate size; giant cysts are exceptional. Diagnosis by imaging is essential to establish the differential diagnosis and surgical treatment(AU)

Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas.

PURPOSE: To describe the visual outcomes and volumetric magnetic resonance imaging (3D MRI) in children with neurofibromatosis type 1 (NF1) and orbitotemporal plexiform neurofibromas. DESIGN: Multicenter retrospective case series. METHODS: Two institutions with dedicated NF1 clinical research programs queried their established clinical databases for children with orbitotemporal plexiform neurofibromas. Visual acuity, refractive error, ambylopia, and treatment history were abstracted. Extent of orbitotemporal plexiform neurofibroma involvement was assessed clinically and with 3D MRI analysis. Children with optic pathway gliomas or ocular causes of decreased visual acuity (ie, cataracts, glaucoma) other than strabismus or anisometropia were excluded. RESULTS: Twenty-one children met inclusion criteria (median age 8 years, range 0.33-23 years). Orbitotemporal plexiform neurofibroma location was classified as isolated eyelid (n = 6), eyelid and orbit (n = 7), orbit and temporal region (n = 7), or diffuse orbit (n = 1). Three subjects had bilateral orbital involvement. Amblyopia secondary to the orbitotemporal plexiform neurofibroma was present in 13 subjects (62%) and was caused by strabismus (n = 2, 10%), occlusion from ptosis (n = 9, 43%), or anisometropia (n = 9, 43%), or a combination of factors (n = 6, 29%). MRI-derived volumes were measured in 19 subjects (median 41.8 mL, range 2.7-754 mL). All subjects with amblyopia had orbitotemporal plexiform neurofibroma volumes greater than 10 mL. CONCLUSION: In our series, amblyopia occurs in more than half of NF1 children with orbitotemporal plexiform neurofibromas, most commonly because of ptosis and anisometropia. The 3D MRI analysis allowed for sensitive measurement of orbitotemporal plexiform neurofibroma size, and larger volumes were associated with development of amblyopia.