Dalvin, Lauren A.

Purpose of review To review recent advancements in the genetic understanding, diagnosis, prognosis, and treatment of uveal melanoma (UM). Recent findings UM is a molecularly distinct melanocytic malignancy driven by mutations in GNAQ or GNA11, with mitogen-activated protein kinase pathway upregulation. Earlier diagnosis and treatment are important factors for improving life prognosis. These goals can be aided by more objective multimodal imaging risk factors for the prediction of malignant nevus transformation and novel treatment strategies such as customized radiation fields and nanoparticle therapy to reduce vision-threatening treatment side effects. The risk for metastatic disease can be reliably predicted through gene expression profiling or the Cancer Genome Atlas project classification, and combined use of clinical tumor features with molecular data allows for highly individualized patient prognosis. Patients with high-risk UM should be considered for clinical trials of adjuvant therapy to prevent metastatic disease. For patients with clinically evident metastasis, combination immunotherapy regimens, T cell-based therapies, and focal adhesion kinase inhibitors offer hope for improved clinical response rates. Summary Improved understanding of UM molecular pathogenesis and clinical trials of targeted therapy for prevention and treatment of metastatic disease may improve patient survival for this challenging disease.

Introduction: To report a case of a Hispanic girl with late-onset Retinoblastoma (Rb) who was misdiagnosed as a pars planitis prior to referral. Nearly 95% of all Rb cases are detected before age 5, and this patient was 8 years-old. Methods: Case report of a late-onset Retinoblastoma with anterior chamber (AC) involvement plus the presence of an Ahmed valve. The patient had a history of a couple of months of topical therapy comprising medication for glaucoma, systemic steroids, and a filtration surgery (Ahmed valve), after that a biopsy was performed prior to referral. Upon arrival at our clinic, we performed an examination under anesthesia (EUA) and a B-scan ultrasound (US). Results: Unilateral Retinoblastoma with an Ahmed valve in an AC filled with Rb seeds was diagnosed with the EUA and US in the left eye. An orbital exenteration with map biopsies of the left orbital cavity was performed with confirmation by histopathology of a poorly differentiated endophytic retinoblastoma with Bruch’s membrane invasion. Follow-up sessions were then arranged as well as subsequent systemic chemotherapy cycles. Conclusion: Given the rare incidence of retinoblastoma in children older than 5 years old, it can be easily mistaken for other differential diagnoses and treated with filtration surgeries that could put the patient’s life at risk. In this report, late-onset Rb diagnosis is highlighted as a differential diagnosis in children and adults with atypical uveitis, which required a multidisciplinary approach.

ObjectivesTo investigate the relationship between choroidal nevus and melanoma thickness measured with or without the sclera included by B‐scan ultrasound and to present a simple conversion formula.MethodsMedical records were retrospectively reviewed for choroidal nevus or melanoma evaluated at the Mayo Clinic in Rochester, Minnesota, with B‐scan ultrasound between February 4, 2004, and April 23, 2020. Charts were retrospectively reviewed for high‐quality B‐scan images in which the ultrasound transducer was perpendicular to the lesion, measuring the tumor thickness without the sclera included. Measurements were repeated with the sclera included for each patient. Univariate and multiple linear regression analyses were performed to identify factors correlated with scleral thickness.ResultsThere were 201 tumors included in the study, with a mean patient age ± SD of 61 ± 14 years, largest tumor basal diameter of 11.8 ± 4.8 mm, tumor thickness without the sclera included of 3.72 ± 2.7 mm, and thickness with the sclera included of 4.54 ± SD 2.8 mm. On the univariate analysis, factors associated with perceived scleral thickness by B‐scan ultrasound included age (P < .001), tumor thickness (P < .001), and basal diameter (P = .06). On the multivariate analysis, factors associated with perceived scleral thickness included age and tumor thickness (P < .001) for all tumors and for the subset of 141 tumors with a thickness of 2 mm or greater (P < .001). For tumors of 2 mm or greater in thickness, perceived scleral thickness by ultrasound can be estimated by the formula 0.00495(patient age) + 0.02451(tumor thickness without the sclera) + 0.42549.ConclusionsWe present a simple formula for converting between B‐scan ultrasound measurements of choroidal nevus and melanoma measuring 2 mm or greater in thickness with and without the sclera included.

Purpose: To investigate risk factors for recurrent or new tumor in patients with conjunctival melanoma. Methods: Retrospective review of patients with conjunctival melanoma managed on the Ocular Oncology Service, Wills Eye Hospital from 1974 to 2019. Results: There were 540 patients with mean follow-up of 57.6 months, of whom 176 (33%) had recurrent or new tumor formation. Risk factors for recurrent or new tumor on univariate analysis included presentation at older age (OR: 1.02 [1.01–1.03] per 1-year increase in age, p = 0.002), history of prior conjunctival surgery (OR: 1.62 [1.05–2.49], p = 0.03), worse visual acuity at presentation (OR: 1.76 [1.04–2.98] per 1 log-unit increase, p = 0.04), more advanced AJCC clinical T-subcategory (OR: 1.08 [1.02–1.14] per 1 subcategory increase, p = 0.01), tumor primary location in tarsal conjunctiva (OR: 1.80 [1.09–2.98], p = 0.02), and secondary tumor involvement of the fornix (OR: 1.68 [1.06–2.65], p = 0.03), and eyelid (OR: 1.92 [1.07–3.43], p = 0.03). Risk factors on multivariate analysis using all demographics, clinical features, and tumor location included presentation at older age (OR: 1.02 [1.00–1.03], p = 0.01), history of prior conjunctival surgery (OR: 1.84 [1.16–2.94], p = 0.01), and more advanced AJCC clinical T-subcategory (OR: 1.07 [1.01–1.13] per one subcategory increase, p = 0.03). Conclusion: On multivariate analysis, the strongest predictors of recurrent or new tumor formation following treatment of conjunctival melanoma included older age, history of prior conjunctival surgery, and advanced AJCC T-subcategory. These results suggest that earlier detection and the first surgery in conjunctival melanoma management are critical for prevention of recurrent or new tumor, and we recommend prompt referral to an experienced surgeon.

Purpose: To investigate ophthalmic side effects of taxanes and compare side effect frequency, requirement for cessation of taxane therapy, visual acuity outcome, and concurrent systemic effects between paclitaxel and docetaxel. Methods: Patients taking taxanes at a single center from 1/1/2010 to 2/29/2020 were retrospectively reviewed for clinical characteristics, treatments, and concurrent systemic adverse effects. Results: Of 1918 patients, 22 (1.1%) experienced an ophthalmic side effect that came to the attention of an eye care provider. Mean age at presentation of the side effect was 62 years (median 66, range 23–82). The most common side effect was meibomian gland dysfunction in 5 (23%) patients, followed by cystoid macular edema in 4 (18%) patients and canalicular obstruction in 4 (18%) patients, followed by diplopia in 2 (9%) patients, and singular cases of lash alopecia, and blepharitis, among others. Lids/lashes as well as nasolacrimal duct adverse effects occurred more frequently with docetaxel therapy than with paclitaxel therapy. Follow-up was available in 10 (45%) patients, with mean duration of 5 months (median 4, range 0–12 months). Of these patients, the ophthalmic side effects were resolved or controlled without discontinuing therapy in 8 (80%) patients. Taxane cessation was required in one patient with docetaxel-related canalicular obstruction and one patient with paclitaxel-related cystoid macular edema. Conclusion: Ophthalmic taxane-related adverse events are rare with estimated frequency of ophthalmic side effects of about 1%. Nevertheless, it is important that ophthalmologists recognize the range of side effects for optimal management. Most ophthalmic events can be treated with targeted therapy without discontinuation of life-prolonging taxane therapy.