This 67YO female presented with a 3-week history of floaters in her left eye. She has a known history of metastatic melanoma of unknown origin, including numerous brain lesions. There was no family history of ocular or cutaneous melanoma. Vision was 20/20 OD and 20/40 OS.
Optos color RG imaging OD shows a suspect choroidal nevus just inferonasal to the macula. There is overlying orange lipofuscin pigment, which is hyperautofluorescent. Optos imaging OS shows extensive pigmented vitreous debris variably obscuring the posterior pole.
Learning Points:
Uveal malignant melanoma (MM) and cutaneous melanoma are rarely associated with each other. The exception is the presence of a mutated tumor suppressor gene, BRCA1-associated protein 1 (BAP1), which is associated with autosomal-dominant uveal MM and other primary cancers, including cutaneous melanoma.
Our patient did not have a primary for her metastatic disease. The presence of a suspect nevus in her right eye and possible metastatic melanoma to her left eye argues for a pathogenic BAP1 mutation. We discussed this possibility with her oncologist, who felt this was highly unlikely given the negative family history. Given her relatively good vision and poor systemic prognosis, observation was recommended as the initial management for her ocular findings. Unfortunately, she died 3 months later.
