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). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).

Optic nerve hemangioblastoma (ONH) is a rare tumor that is usually unilateral and most commonl occurs in the context of von Hippel-Lindau (VHL) disease. Differential diagnosis is based on clinical history and imaging. Magnetic resonance imaging with gadolinium enhancement is the most useful imaging modality as it can reveal flow voids and an absence of dural attachment, differentiating ONH from other more commonly encountered optic nerve tumors. ONH are usually well-circumscribed vascular lesions composed of stromal cells and vascular endothelial cells. These lesions are diagnosed at a mean age of 37 years and can be asymptomatic, but over time patients may develop reduction in vision, proptosis, and pain. Surgical excision is well described via orbital, transsphenoidal or transcranial approaches. Given the risks associated with surgery, a stepwise conservative approach is advocated by most clinicians in the absence of severe symptoms. Although uncommon, this optic nerve tumor should be considered in young patients presenting with pain, proptosis, and optic nerve pallor, with or without a history of VHL disease.

Dropout of ranibizumab therapy was higher among patients who lived far from the clinic, those referred with a diagnosis of age-related macular degeneration, and patients with other health problems. The dropout rate from this clinic was 34.5%. These findings have implications in the planning of interventions to improve the follow-up of patients with blinding eye disease.

The techniques presented can be undertaken in the office rather than a day procedural unit, improving time and cost-effectiveness for the ophthalmologist and patient.