Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism

A 17-year-old girl displayed symptoms of intra-cranial hypertension revealed by chronic diffuse cephalalgia. She underwent surgery for strabismus in childhood and had clinical evidence of ocular albinism (OA), characterized by a partially transilluminated iris at eye examination, and a heterogeneous retinal pigmentation at fundoscopy. This condition was also diagnosed in her father and sister. The diagnosis was confirmed by GPR143 (OA1) sequencing in blood leucocytes, which showed a germline mutation [...]