Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.

Background and aims: X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A, encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas. Methods: We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses. Results: The lesion was indistinguishable from lymphoma, complicating diagnosis and treatment. In addition, considering the high incidence of lymphoma in patients with XLP1, histology helped define its nature, driving therapeutic choices. Conclusion: We described an unusual presentation of incomplete HLH in a patient affected with XLP1: an EBV-driven infiltration of the orbits and paranasal sinuses. This led us to a challenging differential diagnosis of lymphoma-associated hemophagocytic syndrome, which can be frequently observed in patients with XLP1. Considering the extremely poor prognosis of this clinical finding, we sought for a prompt diagnosis and managed to obtain it and to immediately establish the right treatment on the basis of the pathological finding.

Primary Orbital Respiratory Epithelial Cyst: A Systematic Review and Two Case Reports.

A primary orbital respiratory cyst is a congenital choristoma that presents in the orbit and with different signs and symptoms depending on the location, which might also change the surgical approach. The aim of this report is to describe 2 new cases of primary respiratory epithelial cysts and to review the literature on presentation, management, and risk factors with different surgical approaches and complications. Two cases presenting with gradually increased proptosis had a confirmed diagnosis of a respiratory epithelial cyst. CT and MRI imaging revealed a thin-walled intraconal cystic lesion. Complete surgical removal was not possible and an incisional biopsy of the wall was performed. Rarely, orbital respiratory epithelium cysts are primary lesions. The high risk of breaking the capsule during surgery and the presence of residual epithelial cells within the orbit may cause cyst's recurrence. Indeed, we recommend careful attention during dissection maneuvers and a long-term follow-up.

Outcomes and risk factors of surgical management of thyroid eye disease-related diplopia.

OBJECTIVES: To evaluate the outcomes of strabismus surgery in patients with thyroid eye disease (TED) and to assess the influence of preceding treatments such as steroid administration, orbital decompression and radiotherapy. METHODS: Retrospective study on a cohort of patients with TED undergoing strabismus surgery. Data collection included clinical features, smoking status, preceding steroid therapy, orbital radiation therapy and orbital decompression. Qualitative evaluation, assessing diplopia and quality of life and quantitative evaluation, assessing the eye misalignment were analysed 1 year after the last squint surgical procedure. RESULTS: Seventy-nine patients were identified. Ninety-five surgical procedures were performed on 92 eyes. A significant overall improvement of ocular motility was registered (p < 0.001, paired t-test). Forty-five (57%) patients had excellent outcomes, twenty-three (29%) had good outcomes and eleven (14%) had poor outcomes. The average number of muscles operated was significantly greater in patients who underwent orbital bone decompression (1.58 ± 0.63; p = 0.0082; 95% CI 1.413-10.214). Quantitative and qualitative outcomes were not associated with the preceding therapy: steroid (p = 0.75), radiotherapy (p = 0.95) or orbital bone decompression (p = 0.25). The success rate was no different between adjustable and fixed sutures (p = 0.8). CONCLUSION: Strabismus surgery in TED patients resulted in a high success rate in reducing diplopia and improving ocular motility. The success rate was not negatively associated with previous therapies. Indeed, resolution of diplopia required more squint procedures in patients who have previously undergone to orbital decompression.

A rare case of bilateral conjunctival Kaposi's sarcoma in a HIV-negative patient.

PURPOSE: Kaposi's sarcoma (KS) is a rare multi-centric vascular neoplasm, first described by Moritz Kaposi in 1872. It can appear in four different forms: classic, endemic, HIV-related and post-transplant form. We present an uncommon case of seronegative HIV infection patient with skin KS involving conjunctiva of both eyes. OBSERVATIONS: Firstly, right eye lesions were surgically removed. Subsequently, the patient was administered with systemic chemotherapy (doxorubicin) to treat both skin and left eye lesions. No signs of recurrence were observed at 20 months' follow-up. CONCLUSIONS: Both eyes involvement in KS is rarely described in scientific literature. Both surgery and chemotherapy could be considered valid treatment options for conjunctival KS.

Primary cutaneous anaplastic large-cell lymphoma of the eyelid: report of two cases and review of the literature.

PURPOSE: Two new cases of primary cutaneous CD30+ anaplastic large-cell lymphoma (cALCL) of the eyelid are reported; these are analysed alongside existing cases to identify challenges relating to the diagnosis and management of such rare lesions. MATERIAL AND METHODS: A review of existing literature on the PubMed database is conducted using the keywords: 'eyelid lymphoid proliferations', 'lymphoma of the eyelid', and 'primary cutaneous CD30+, ALK-anaplastic large-cell lymphoma of the eyelid'. Two new cases of cALCL are reported. Cases where patients present solely with a nodular periocular lesion are analysed for recurrence and survival rate. RESULTS: Two new patients with a painless ulcerated nodule on the upper eyelid receive a confirmed diagnosis of cALCL after undergoing an excisional biopsy. The first, elderly patient has spontaneous remission; the second patient, with a concomitant chronic infection of hepatitis C virus (HCV), presents a more diffuse disease at the onset and requires radiotherapy. Together with 13 patients a primary cALCL identified from 11 previous studies, this constitutes a cohort of 15 patients. Of these, 10 present with an exclusively nodular lesion of the eyelid and four experience disease recurrence; no deaths from cALCL are reported. CONCLUSION: Differential diagnosis between primary cALCL and lymphomatoid papulosis is essential and requires careful consideration of clinical and pathologic features. Radiologic staging examination is crucial in order to exclude systemic ALCL, particularly for patients with comorbidity. Though cALCL has the pathological features of a malignant lesion, the prognosis seems favourable for patients; a relatively high percentage even experience spontaneous resolution.

Relation of the eighth edition of the American Joint Committee on Cancer staging system with histological risk classification for primary eyelid basal cell carcinoma.

PURPOSE: To investigate the relation between the eighth edition of the American Joint Committee on Cancer staging system and histological risk classification for primary eyelid basal cell carcinoma. METHODS: Retrospective, observational case series of patients undergoing excisional biopsy for primary eyelid basal cell carcinoma in two tertiary centres between 2008 and 2018. Patients with <6 months of follow-up were excluded. Outcomes measured included histological subtype, American Joint Committee on Cancer 7 and 8 staging. RESULTS: A total of 222 cases were included over a 10-year period, with a mean (range) follow-up of 25.74 (6-120) months and a median (range) age of 70 (28-93) years. According to American Joint Committee on Cancer 8, the most common T category was T1a (64%), followed by T1b (18%) and T2a (8%). Of the 222 specimens, 183 (82.43%), 17 (7.66%), 19 (8.56%) and 3 (1.35%) were staged as IA, IB, IIA and IIB, respectively. The most common histological subtype was nodular in IA category and infiltrative in categories IB and IIA. Histologically, low-risk basal cell carcinomas were related to lower American Joint Committee on Cancer staging (IA), whereas high-risk basal cell carcinomas were related to American Joint Committee on Cancer stages IB and IIA (p < 0.001). No significant relation was found between T categorisation and risk stratification when adopting American Joint Committee on Cancer 7. CONCLUSION: American Joint Committee on Cancer 8 staging system is strongly related to primary eyelid basal cell carcinoma histological risk classification.

The role of ultrasonography in differential diagnosis of orbital lesions.

AIMS: The aim of this study is to assess the value of ultrasound in the differential diagnosis of orbital lesions. METHODS: One hundred and thirty-eight patients with clinical features of an orbital mass were examined by orbital ultrasound prior to undergoing surgery, from January 2000 to January 2017. All patients underwent excisional or incisional orbital biopsy. The results of orbital ultrasonography were compared with the final histological diagnosis. RESULTS: Orbital lesions were localized by ultrasonography in 133/138 cases (96.4%); the false-negative rate of orbital echography was 3.6% (5/138). The nature of the orbital lesions was correctly determined by ultrasonography in 54.3% of the cases (75/138) preoperatively (true positives). In 58/138 (42%) patients, there was no correspondence between the ultrasound diagnosis and the histological diagnosis (false positives). The sensitivity of orbital ultrasonography for the detection of an orbital mass was 93.75% (CI 87.87-99.63%), while the specificity yielded no meaningful result (CI 0.00-60.24%). Moreover, the specificity of orbital ultrasonography to identify a malignant tumor falls within a CI of 0-62.72%. CONCLUSIONS: Orbital ultrasonography is a rapid and noninvasive test that is highly sensitive in displaying an orbital mass; however, the specificity in the differential diagnosis of orbital lesions is not meaningful, particularly if malignancy is suspected. The assessment of orbital diseases requires multiple diagnostic approaches to balance the strengths and weaknesses of each method.

Orbital and Eyelid B-Cell Lymphoma: A Multicenter Retrospective Study.

BACKGROUND: The aim of this study was to analyze patients diagnosed, staged and treated for orbital and eyelid B-cell lymphoma (OEL). METHODS: One hundred and forty-one cases of OEL were included in this study. Primary endpoints were to analyze the histopathologic findings, the main risk factors and the type of treatment and to correlate them with recurrence of OEL. The secondary endpoint was to determine the progression-free survival (PFS) time. RESULTS: Extranodal marginal zone B-cell lymphoma was the most frequent subtype (66%), followed by small lymphocytic lymphoma (12.7%), diffuse large B-cell lymphoma (DLBCL) (9.2%), follicular lymphoma (6.6%), mantle cell lymphoma (4.3%) and Burkitt lymphoma (1.2%). The probability of relapse was influenced by the histopathologic subtype DLBCL (OR = 7.7, 95% CI 1.8-32.3) and treatment with chemotherapy (OR = 14.9, 95% CI 2.6-83.7). Multivariate analysis showed that the histopathologic subtype DLBCL and chemotherapy treatment retained statistical significance for a poorer PFS, with hazard ratios of 8.581 (p = 0.0112) and 9.239 (p = 0.0094), respectively. CONCLUSIONS: Five lymphoma subtypes were found in patients with OEL. The histopathologic subtype and the type of treatment were found to be the main factors influencing treatment outcome.

Orbital solitary fibrous tumors: a multi-centered histopathological and immunohistochemical analysis with radiological description.

BACKGROUND: Solitary fibrous tumors (SFT), formerly called hemangiopericytoma, are rare tumors derived from mesenchymal cells originally described in the pleura, but these tumors may affect extraserosal tissues including the lacrimal gland and orbit. OBJECTIVE: Conduct a multi-centered clinical, radiological and histopathological analysis of 17 orbital SFT cases. DESIGN: A retrospective case series. SETTING: Three eye centers in two countries. PATIENTS AND METHODS: The data collected from the charts of 17 adult patients presenting with tissue diagnosis of orbital hemangiopericytoma or SFT from January 2003 to December 2018 included demographics, clinical imaging and histopathological information including immunohistochemical (IHC) characteristics. MAIN OUTCOME MEASURES: The demographic characteristics, clinical presentation, and histopathological patterns or variants of SFT were analyzed. SAMPLE SIZE: 17 adult patients. RESULTS: Mean age was 45 years (range 23-80 years). Male to female ratio was 3:1. The right eye was affected in 12 (70.5%) patients. Commonest presentation was proptosis in 13/17 (76% of patients). Other symptoms were impaired motility (29%) and ptosis (11%). Lesions mostly affected the medial orbit (35%), then orbital apex in 11%. The histopathological classic pattern-less variant was the commonest. One case with aggressive behavior, multiple recurrences and atypical features was encountered. Immunohistochemical (IHC) markers used included CD34 expression in all cases, Bcl-2 expression in 10/11, CD99 in 9/9 and Vimentin in 4/4. STAT6 was used in 2 cases. CONCLUSIONS: SFTs are rare tumors affecting the orbit in both genders equally in their mid-forties, but showed male predominance in our analysis with a predominant classic histopathological pattern. Tissue diagnosis is essential and requires IHC studies for confirmation. LIMITATIONS: Sample size is relatively small owing to the rarity of this tumor in the orbit. CONFLICT OF INTEREST: None.

Comparison of visual performance and satisfaction with a bilateral emmetropic vs a bilateral mild myopic target using a spherical monofocal intraocular lens.

PURPOSE: To compare the binocular visual outcomes and satisfaction of patients with emmetropia or mild myopia (-0.50 diopters [D]) implanted with a bilateral spherical monofocal IOL. SETTING: Ophthalmology Department, Humanitas Clinical and Research Center, Rozzano, Milan, Italy. DESIGN: Prospective nonrandomized study. METHODS: This study comprised 2 groups of 30 patients each. Group 1 included patients implanted with bilateral monofocal IOLs with near emmetropic target (plano to -0.25 D). Group 2 included patients with a postoperative bilateral target of -0.50 D. Both groups underwent uncorrected and corrected distance defocus curves postoperatively and subjective questionnaires were used to investigate patient satisfaction postoperatively. RESULTS: The defocus curve showed a significant difference between Group 1 and Group 2 binocular vision (all P values <.01 except at -3.00 D where P value = .32) with Group 1 seeing significantly better than Group 2 at +1.00, +0.50, and 0 but significantly worse in all other points of the defocus. In addition, patients of Group 2 at 0 D of defocus curve (infinite) had a visual acuity close to 0 logarithm of the minimum angle of resolution (logMAR) (0.03 ± 0.04). The main outcome of Group 2 defocus curves was that, at defocus point 0 D, even if the mean refraction was -0.67 0.15 × 160, mean uncorrected logMAR visual acuity was 0.0 ± 0.06. CONCLUSIONS: Bilateral monofocal IOLs implanted with mild myopic target provided better intermediate visual acuity compared with emmetropia at a minimal cost in terms of uncorrected distance visual acuity.

The Relationship between Macular Pigment and Vessel Density in Patients with Type 1 Diabetes Mellitus.

AIM: Macular pigment density and microvascular density on optical coherence tomography angiography (OCTA) were measured in a cohort of type 1 diabetes mellitus (T1DM) patients with retinopathy in the attempt to shed light on the pathophysiology of this condition. METHODS: Eighty-two consecutive eyes of 59 patients with diabetic retinopathy examined at the Eye Clinic of the University of Naples Federico II from November 2016 to April 2017 were enrolled in this prospective study. Eighty normal eyes of 40 age-matched subjects without diabetes mellitus, without a history of glaucoma or evidence of intraocular surgery, and without retinal pathologic features constituted the control group. All patients and controls underwent a complete ophthalmic examination, best corrected visual acuity evaluation according to the ETDRS visual logMAR scale, measurement of intraocular pressure, OCTA, and evaluation of macular pigment. RESULTS: There were no significant age differences between patients and controls. Both macular pigment measurements and vessel density measured by OCTA were significantly lower in patients than in controls. A moderate correlation was found between vessel density in all ETDRS sectors and macular pigment parameters. CONCLUSIONS: There was a reduction in macular pigment and in OCTA vessel density in T1DM patients with retinopathy, which may have prognostic value in determining disease progression.