Ocular melanocytosis and uveal melanoma

This is the left eye of a woman in her late 80s with congenital ocular melanocytosis who presented with a new dark shadow in her nasal field of vision (fig 1). On examination, patchy scleral pigmentation was observed in all quadrants of the left eye, and funduscopy showed a dark, temporally located choroidal tumour. A uveal melanoma with a high risk BAP1 mutation and chromosome 3 monosomy was diagnosed from a biopsy sample of the tumour. Ocular melanocytosis is a congenital scleral hyperpigmentation caused by excess and oncogenic mutated melanocytes in the uveal tract.1 Lifetime risk of uveal melanoma has been estimated at one in 13 000 people in the general population and one in 400 in individuals with ocular melanocytosis.2 Individuals with ocular melanocytosis should be examined annually from childhood for the presence of iris, ciliary, or choroidal melanomas, as early identification improves prognosis.3bmj;383/nov23_11/e078198/F1F1f1Fig 1
Read Original Article: Ocular melanocytosis and uveal melanoma »