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In this geo-epidemiological study performed in Italy-France, Erdheim-Chester disease (ECD) is increasingly diagnosed in the past few years and cases cluster in specific geographic areas, namely Southern Italy and Central France. Disease frequency inversely correlates with the Human Development Index.

Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye's adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options.

Purpose: The main purpose of treatment of advanced ocular surface and periocular malignant tumors is to eradicate the tumor while trying to preserve visual function and aesthetics. Our purpose is to describe the outcome of a retrospective case series of 10 patients with advanced ocular surface and periocular tumors treated surgically in first instance and then with postoperative interventional radiotherapy (IRT/Brachiterapy). Materials and methods: We describe the clinicopathological features, treatments and outcome, in a retrospective case series of 10 patients with advanced tumors involving ocular surface (staging ≥ T2) and eyelids (staging ≥ T3), with involvement of periocular and/or orbit tissues. Patients were first surgically treated, most of them with incomplete excision, and then underwent a post-operative interventional radiotherapy (IRT/Brachytherapy) as an alternative to more invasive and disfiguring surgical retreatment. Tumor location, risk factors, staging, histological features, and follow-up timing were analyzed. Results: Three patients had advanced eyelid basal cell carcinomas, 2 patients were diagnosed with eyelid and conjunctival squamous cell carcinomas, 3 as sebaceous carcinomas, and 2 as primary conjunctival melanomas. The mean follow-up time from IRT to last clinical follow-up was 58.6 weeks, range 28.4-168 (median 43.65, IQR 28.9-72.9). Two patients - one with ocular surface SCC, the other with conjunctival melanoma - had a local recurrence 23.4 and 40,9 weeks after IRT, respectively. An overview of the current knowledge on adjuvant or post-operative IRT is also provided. Conclusions: IRT can be considered an effective therapeutic option to avoid more invasive surgical retreatment in advanced tumors involving eyelids and ocular surface.

We read with interest the paper by Rezkallah et al. entitled “Unexpected amaurosis occurring after peribul- bar anesthesia: Exploring the causes in two cases. We propose an alternative mechanism to transient monocular visual loss (TMVL)

Purpose: Since there is a lack of clear information regarding the benefit to combine supportive therapies (such as artificial tears) to mitomycin C (MMC) in the treatment of ocular surface neoplasia, the primary purpose of the study was to evaluate hyaluronic acid eye drops and hyaluronic acid-conjugated lactobionic acid (LACTOyal FREE) eye drops as supportive therapy. Methods: Retrospective evaluation of patients with ocular surface squamous neoplasia or conjunctival melanocytic tumor treated with MMC, who had used also artificial tears as supportive treatment. A 6-month follow-up with evaluation of subjective and objective tests for ocular surface integrity was conducted. Results: A total of 35 patients were analyzed, most of them with squamous disease (71.4%). The break-up time (BUT), Ocular Surface Disease Index (OSDI) and Schirmer test values showed a significant difference at any time point with overall population. No statistical difference was found among subgroups (Lactoyal vs No Lactoyal). Conclusion: The use of an ancillary therapy based on hyaluronic acid allows to improve both subjective and objective ocular parameters, reducing MMC induced adverse effects. Meantime, hyaluronic acid-conjugated lactobionic acid eye drops highlighted the same advantages with a more positive trend in OSDI results.

Purpose: To describe a case of cilio-choroidal melanoma presenting as aseptic orbital cellulitis with massive conjunctival chemosis. Methods: Case report. Results: A 51-year-old man with a left retro-iris pigmented lesion had acute lid edema, conjunctival chemosis, and extensive hyphema. Ultrasound revealed a large, lobulated, wide-base choroidal-starting lesion affecting the ciliary bodies and vitreous chamber. MRI revealed low-intermediate T2-signal and intermediate-high T1-signal, with substantial post-contrastographic enhancement. After one week of systemic corticosteroids, the chemosis reduced significantly, and the patient was referred for enucleation, even without histologic confirmation. Post-surgical histopathology found 90% necrotic tissue, few viable cells, and no scleral or vascular invasion, with genetic analysis showing monosomy of chromosome 3 and 8q gain. Conclusion: Choroidal melanoma, particularly if necrotic, may occasionally present as aseptic orbital cellulitis, even without extraocular spread.

Dupilumab, blocking IL-4 and IL-13 signals, improves atopic dermatitis and Quality of Life but might be also associated with the occurrence of ocular adverse events (OAEs). The main objective of our prospective study was to characterize the cytokine and chemokine profile in the tear fluid of dupilumab-treated patients with moderate-to- severe atopic dermatitis and to identify biomarkers predicting the occurrence of ocular adverse events. Patients with moderate-to-severe AD underwent dermatological and ophthalmological evaluation at the baseline (T0) and week 16 or at the time of an eventual ocular adverse events (T1). A multiplex immunoassay measuring multiple cytokines and chemokines in the tear fluid extracted during ocular examination at both T0 and T1 was performed. Thirty-nine patients with moderate-to-severe AD and treated with dupilumab were included in the study. Baseline tear fluid levels revealed a significantly higher concentration of type 2 cytokines and chemokines in AD patients than healthy controls. The occurrence of ocular adverse events during dupilumab therapy was associated with a significant increase of IL-33 tear fluid levels and a significantly lower tear break-up time, this latter also identified as predictive factor. Our findings suggest that the ophthalmological examination should be considered a valid support to identify patients at risk of developing OAEs and to provide their appropriate management.

Background/Aims Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients. Methods Retrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data. Results 89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as 'excellent' or 'good' in 90% of cases by physicians and 97% of cases by patients or guardians. Conclusion The favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion.

Purpose To report three cases of ocular myositis and scleritis, bilateral scleritis and unilateral single muscle myositis after mRNA COVID-19 vaccination.Methods Case series of three patients who presented to the Orbit Outpatient Service of Fondazione Policlinico Universitario A. Gemelli with a history of unilateral proptosis, diplopia and pain, bilateral red eye and pain during eye movements and unilateral proptosis and inconstant diplopia respectively with onset 5-10 days after m-RNA COVID-19 vaccine. A thorough hematologic work up and orbital contrast enhanced magnetic resonance imaging (MRI) in patients with proptosis was performed.Results Patients were females, 64, 58 and 45 years old respectively. MRI showed enlargement of all right rectus muscles, with both muscle belly and insertion involvement in the first case associated to right scleritis. A bilateral scleritis was diagnosed in the second patient and a single muscle myositis in the third patient. Serological tests excluded thyroid diseases. The first and second patient were treated respectively with oral and topical glucorticoids with a complete clinical response. Two 2 cycles of oral non-steroidal anti-inflammatory drugs were administered to the third patient with a partial response.Conclusion As far as we know these are the first report of orbital myositis and scleritis presenting after mRNA BNT162b2 vaccine (Pfizer/BioNTech) and mRNA-1273-(Moderna) vaccine, an uncommon effect of a likely autoimmune reaction triggered by the virus antigen.

ObjectiveThyroid-associated orbitopathy (TAO) is the most frequent cause of extraocular muscle enlargement, with consecutive restrictive strabismus. The main muscles involved are inferior and medial rectus, resulting in horizontal esotropia and/or vertical strabismus. Surgery may either establish or improve binocular single vision. The aim of the present study is to describe long-term follow-up of patients who underwent horizontal or vertical TAO strabismus surgery. MethodsThis observational retrospective study included 29 patients suffering from either vertical or horizontal TAO strabismus and diplopia, of whom 11 underwent bilateral medial recti muscle recession (Group A) and 18 underwent unilateral inferior rectus muscle recession (Group B). The endpoint of the study was the assessment of changes in deviation angle and diplopia across four time points (baseline, 7 days, 6 months, and 24 months) in each group. ResultsIn Group A, the horizontal deviation angle significantly decreased 7 days after intervention (p < 0.001), without modifications overtime. In Group B, both deviation angles in primary and down-gaze position significantly decreased from baseline, both 7 days after surgery (p < 0.001) and at 6 months (p = 0.040). An overcorrection, with an inversion of vertical deviation angle, was observed across the different time points. ConclusionsHorizontal TAO strabismus correction leads to significant improvements of deviation angle and diplopia, with a stable undercorrection overtime. Inferior rectus recession leads to more unstable results, with a trend towards overcorrection limited to the first 6 months after surgery.