The Fight Tumour Blindness Registry: Efficient capture of high-quality real-world data in uveal melanoma.

Objective: To describe the development of a web-based data collection tool to track the management and outcomes of uveal melanoma patients.

Design: Description of a clinical registry.

Participants: Patients with uveal melanoma.

Future perspectives of uveal melanoma blood based biomarkers.

Uveal melanoma (UM) is the most common primary intraocular malignancy affecting adults. Despite successful local treatment of the primary tumour, metastatic disease develops in up to 50% of patients. Metastatic UM carries a particularly poor prognosis, with no effective therapeutic option available to date.

Analysis of Circulating Tumour Cells in Early-Stage Uveal Melanoma: Evaluation of Tumour Marker Expression to Increase Capture.

(1) Background: The stratification of uveal melanoma (UM) patients into prognostic groups is critical for patient management and for directing patients towards clinical trials. Current classification is based on clinicopathological and molecular features of the tumour. Analysis of circulating tumour cells (CTCs) has been proposed as a tool to avoid invasive biopsy of the primary tumour.

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.

Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris).

Low-Pass Whole-Genome Sequencing as a Method of Determining Copy Number Variations in Uveal Melanoma Tissue Samples.

Analysis of specific somatic copy number alterations (SCNAs) using multiplex ligation-dependent probe amplification (MLPA) is used routinely as a prognostic test for uveal melanoma (UM). This technique requires relatively large amounts of input DNA, unattainable from many small fine-needle aspirate biopsy specimens. Herein, we compared the use of MLPA with whole-genome amplification (WGA) combined with low-pass whole-genome sequencing (LP-WGS) for detection of SCNA profiles in UM biopsy specimens.

A Panel of Circulating MicroRNAs Detects Uveal Melanoma With High Precision.

Purpose: To determine if a circulating microRNA (miRNA) panel could be used to distinguish between uveal melanoma and uveal nevi.

Methods: We report on a multicenter, cross-sectional study conducted between June 2012 and September 2015. The follow-up time was approximately 3 to 5 years.

Clinical Application of Circulating Tumor Cells and Circulating Tumor DNA in Uveal Melanoma.

Purpose: To evaluate the feasibility of using circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) for the management of uveal melanoma (UM).

Patients And Methods: Low-coverage whole-genome sequencing was used to determine somatic chromosomal copy number alterations (SCNAs) in primary UM tumors, ctDNA, and whole-genome amplified CTCs. CTCs were immunocaptured using an antimelanoma-associated chondroitin sulfate antibody conjugated to magnetic beads and immunostained for melanoma antigen recognised by T cells 1 (MART1)/glycoprotein 100 (gp100)/S100 calcium-binding protein β (S100β).

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.

Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there was no recognized overlap in the genetic contribution to AMD and POAG.

Survival from uveal melanoma in Western Australia 1981-2005.

Background: The survival rates for patients diagnosed with uveal melanoma in Australia are unknown. Few long-term studies of uveal melanoma are available, and it is unclear whether their results are applicable to the Australian population.

Design: Retrospective population-based study.

Rosai-Dorfman disease presenting as choroidal melanoma: a case report and review of the literature.

Background: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare non-malignant proliferation of histiocytes of unknown aetiology. It was first recognised as a distinct clinicopathologic entity in 1969, and is classified as an idiopathic non-Langerhans cell histiocytosis. The disease process is usually self-limiting and often involves lymph nodes, but extranodal involvement is well-described and any anatomic site can be involved.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or limited distribution of yellow-white retinal lesions of various sizes and configurations. Three siblings who have benign fleck retina and were born to consanguineous parents are the basis of this report. A combination of homozygosity mapping and exome sequencing helped to identify a homozygous missense mutation, c.

Comparison of visual acuity outcomes between ranibizumab and bevacizumab treatment in neovascular age-related macular degeneration.

Aim: To compare visual acuity (VA) outcomes between intravitreal injection of bevacizumab and ranibizumab in the treatment of neovascular age-related macular degeneration (AMD).

Methods: We conducted a consecutive, retrospective case series study in patients with newly diagnosed all type choroidal neovascularization (CNV) secondary to AMD who received an intravitreal injection of bevacizumab (1.25mg) or ranibizumab (0.

Complement factor H Y402H and C-reactive protein polymorphism and photodynamic therapy response in age-related macular degeneration.

Purpose: To investigate the association between complement factor H (CFH) and C-reactive protein (CRP) genotypes and response to photodynamic therapy (PDT) treatment for neovascular age-related macular degeneration (AMD).

Design: Retrospective cohort study.

Participants: The study cohort consisted of 273 neovascular AMD patients treated with PDT.

Rapid resolution of severe disc new vessels in proliferative diabetic retinopathy following a single intravitreal injection of bevacizumab (Avastin).

A 70-year-old man with asymptomatic proliferative diabetic retinopathy received a single intravitreal injection of bevacizumab (Avastin). One month following treatment there was complete resolution of new vessels.

Management and outcomes of postoperative endophthalmitis since the endophthalmitis vitrectomy study: the Endophthalmitis Population Study of Western Australia (EPSWA)'s fifth report.

Purpose: To examine if changes in the diagnosis and management of postoperative endophthalmitis have occurred since 1995, and to identify factors that might predict final visual outcome.

Design: Retrospective, population-based, noncomparative, consecutive case series.

Participants: Patients with clinically diagnosed endophthalmitis after cataract surgery and lens-related surgery in Western Australia from 1980 to 2000.