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Purpose: To explore the genetic background of choroidal and ciliary body melanoma among children and young adults, with special focus on BAP1 germline variants in this age group., Methods: Patients under the age of 25 and with confirmed choroidal or ciliary body melanoma were included in this retrospective, multicenter observational study. Nuclear BAP1 immunopositivity was used to evaluate the presence of functional BAP1 in the tumor. Next-generation sequencing using Ion Torrent platform was used to determine pathogenic variants of BAP1, EIF1AX, SF3B1, GNAQ and GNA11 and chromosome 3 status in the tumor or in DNA extracted from blood or saliva. Survival was analyzed using Kaplan-Meier estimates., Results: The mean age at diagnosis was 17 years (range 5.0-24.8). A germline BAP1 pathogenic variant was identified in an 18-year-old patient, and a somatic variant, based mainly on immunohistochemistry, in 13 (42%) of 31 available specimens. One tumor had a somatic SF3B1 pathogenic variant. Disomy 3 and the absence of a BAP1 pathogenic variant in the tumor predicted the longest metastasis-free survival. Males showed longer metastasis-free survival than females (P = 0.018)., Conclusions: We did not find a stronger-than-average BAP1 germline predisposition for choroidal and ciliary body melanoma among children and young adults compared to adults. Males had a more favorable survival and disomy 3, and the absence of a BAP1 mutation in the tumor tissue predicted the most favorable metastasis-free survival. A BAP1 germline pathogenic variant was identified in one patient (1%), and a somatic variant based mainly on immunohistochemistry in 13 (42%).

Introduction: Proton beam therapy has been utilised for the treatment of uveal melanoma in the UK for over 30 years, undertaken under a single centre. In the UK, all ocular tumours are treated at one of four centres. We aimed to understand the variation in referral patterns to the UK proton service, capturing all uveal melanoma patients treated with this modality., Methods: Retrospective analysis of data regarding all patients treated at the Clatterbridge Proton service between January 2004 and December 2014., Results: A total of 1084 patients with uveal melanoma were treated. The mean age was 57 years (range 9-90 years), basal diameter of 11.5 mm (range 2.0-23.4 mm) and tumour thickness of 3.9 mm (range 0.1-15.4 mm). The majority were TNM stage I (39%) or II (36%). The distance to the optic nerve varied from 0 to 24.5 mm with 148 (14%) of patients having ciliary body involvement. There were variations in the phenotypic characteristic of the tumours treated with protons from different centres, with London referring predominantly small tumours at the posterior pole, Glasgow referring large tumours often at the ciliary body and Liverpool sending a mix of these groups., Discussion: In the UK, common indications for the use of proton treatment in uveal melanoma include small tumours in the posterior pole poorly accessible for plaque treatment (adjacent to the disc), tumours at the posterior pole affecting the fovea and large anterior tumours traditionally too large for brachytherapy. This is the first UK-wide audit enabling the capture of all patients treated at the single proton centre., (© 2022. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

The COVID-19 pandemic has had an unprecedented impact on the National Health Service in United Kingdom. The UK Ocular Oncology Services evaluated the impact on the adult eye cancer care in the UK. All four adult Ocular Oncology centres participated in a multicentre retrospective review comparing uveal melanoma referral patterns and treatments in a 4-month period during the national lockdown and first wave of the COVID-19 pandemic in 2020 with corresponding periods in previous 2 years. During the national lockdown, referral numbers and confirmed uveal melanoma cases reduced considerably, equalling to ~120 fewer diagnosed uveal melanoma cases compared to previous 2 years. Contrary to the recent trend, increased caseloads of enucleation and stereotactic radiosurgery (p > 0.05), in comparison to fewer proton beam therapy (p < 0.05), were performed. In the 4-month period following lockdown, there was a surge in clinical activities with more advanced diseases (p < 0.05) presenting to the services. As the COVID-19 pandemic continues to mount pressure and reveal its hidden impact on the eye cancer care, it is imperative for the Ocular Oncology Services to plan recovery strategies and innovative ways of working.

Importance: Patients with myotonic dystrophy (MD) have an increased risk of malignancy including uveal melanoma. This case series further explores the association between these 2 diseases., Objective: To describe a cohort of patients with uveal melanoma associated with MD, including a case of iris melanoma, and MD-associated uveal melanoma in relatives., Design, Setting, and Participants: Retrospective case series at 3 tertiary referral centers (Wills Eye Hospital, Philadelphia, Pennsylvania; Mayo Clinic, Rochester, Minnesota; and Moorfields Eye Hospital, London, England), between January 1, 2000, and August 31, 2017. The study included 6 patients with MD and uveal melanoma., Main Outcomes and Measures: Melanoma response to treatment and development of metastatic disease., Results: There were 6 patients, 4 men and 2 women, with MD and uveal melanoma. The mean patient age at melanoma diagnosis was 47 years (median, 43 years; range, 30-67 years), and the tumor involved the choroid in 5 patients (83%) and iris in 1 patient (17%). The diagnosis of MD was known since young adulthood in 2 patients (33%) and was discovered in adulthood in 4 patients (67%). The main clinical features of MD included muscle weakness (n = 5; 83%), myotonia (n = 4; 67%), polychromatic cataract (n = 4; 67%), complications with general anesthesia (n = 4; 67%), myalgia (n = 3; 50%), cardiac arrhythmia (n = 2; 33%), and frontal baldness (n = 2; 33%). Genetic testing revealed MD type 1 (4 of 4 tested patients), and 2 patients demonstrated positive family history of MD with classic clinical features and preferred no testing. Melanoma treatment included plaque radiotherapy (n = 4; 67%), photodynamic therapy (n = 1; 17%), and declined treatment (n = 1; 17%). At follow-up of 6, 6, 41, 42, and 87 months (5 patients), findings included melanoma regression (4 of 5 tumors), melanoma recurrence (1 of 5 tumors), and no metastatic disease (5 of 5 patients)., Conclusions and Relevance: Six adult patients with MD demonstrated uveal melanoma involving the choroid or iris, emphasizing the association between these 2 diseases. Further research seems warranted to explore the pathogenesis of uveal melanoma in MD. These findings support the consideration of ophthalmic examination for uveal melanoma in patients with MD.

Purpose: To report two cases of mesectodermal leiomyoma of the ciliary body presenting as anterior staphyloma., Methods: Two case reports with cytopathologic correlation., Results: First patient (15-year-old boy) presented with a nodular lesion in the sclera. Second patient (31-year-old woman) was found to have a brown ciliary body mass. Growth of the lesion and extrascleral extension was noticed after several years of follow-up. Ultrasonography, light microscopy, and immunohistochemistry of both cases are described confirming mesectodermal leiomyoma of the ciliary body., Conclusion: Mesectodermal leiomyoma, despite its rarity, should be considered in the differential diagnosis of uveal tract tumors. Clinically, the diagnosis is difficult and histopathological and immunohistochemical assesment is necessary to avoid inappropriate diagnosis and erroneous treatment.

The United Kingdom (UK) uveal melanoma guideline development group used an evidence based systematic approach (Scottish Intercollegiate Guidelines Network (SIGN)) to make recommendations in key areas of uncertainty in the field including: the use and effectiveness of new technologies for prognostication, the appropriate pathway for the surveillance of patients following treatment for primary uveal melanoma, the use and effectiveness of new technologies in the treatment of hepatic recurrence and the use of systemic treatments. The guidelines were sent for international peer review and have been accredited by NICE. A summary of key recommendations is presented. The full documents are available on the Melanoma Focus website., (Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Aims: To compare anterior segment optical coherence tomography (AS-OCT) with ultrasound B-scan (USB) in evaluating iris and iridociliary body lesions., Methods: Image features and resolution comparison between AS-OCT and USB in 126 patients (126 eyes) presenting with iris or iridociliary body lesion. Bland-Altman plots were generated to assess the level of agreement between the two techniques., Results: The three most common diagnoses were iris naevi (62 (49.2%)), iris pigment epithelial cysts (23 (18.3%)) and iris melanoma (11 (8.7%)). Image feature comparison for USB was better than AS-OCT in visualising all tumour margins (81 (64.3%) vs 59 (46.8%)), posterior tumour margin (54 (42.9%) vs 16 (12.7%)) and producing less posterior shadowing (121 (96%) vs 43 (34.1%)). Image resolution comparison revealed USB to be slightly better for resolving the overall tumour (45 (35.7%) vs 43 (34.1%)) and posterior tumour surface (70 (55.6%) vs 32 (25.4%)) but AS-OCT was better for resolving the anterior (62 (49.2%) vs 4 (3.2%)) and lateral tumour surface (62 (49.2%) vs 31 (24.6%)). Comparing the three most common diagnoses, USB was better for visualising iris pigment epithelial cysts (12 (52.2%) vs 2 (8.7%)) and iris melanoma (7 (63.6%) vs 1 (9.1%)) but AS-OCT was better (28 (45.2%) vs 15 (24.2%)) for visualising iris naevi. Bland-Altman plots showed good agreement between the two techniques for lesions smaller than 3 mm in base and 2 mm in elevation., Conclusions: AS-OCT is superior to USB for imaging small lesions pertaining to the anterior iris but USB is better for imaging larger iris lesions with posterior or ciliary body extension., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Purpose: To determine whether metastasis-free survival following stereotactic radiosurgery is comparable with that following enucleation in a cohort of patients with choroidal and ciliary body melanoma., Methods: This was a non-randomized, retrospective study of 196 patients with uveal melanoma treated between 1990 and 2000. A total of 118 eyes were enucleated and 78 eyes were treated with stereotactic radiosurgery. The following variables were recorded: age and sex of patient; tumour location, volume and height; the presence of retinal detachment, and extrascleral extension. Tumour location was divided into three categories: within the posterior pole; beyond the limits of the posterior pole but not including the ciliary body, and ciliary body location. Analysis of survival time was performed using Kaplan-Meier estimation of survival curves and Cox's proportional hazards regression modelling., Results: The 5-year cumulative metastasis-free survival rate was 51% in the enucleation treatment group compared to 74% in the stereotactic treatment group. However, in the multivariate analysis there was no statistical difference in survival rates between the two treatment groups. The only variables that influenced survival rates were tumour location (p = 0.002), ciliary body tumours with the worst prognosis, and tumour volume (p = 0.001)., Conclusions: Tumour size and location at presentation determined metastasis-free survival. Large ciliary body tumours had the highest risk of metastasis. Metastasis-free survival after stereotactic radiosurgery was comparable to that after enucleation.