Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism

Abstract

To report a case of amelanotic ciliochoroidal melanoma in a patient with oculocutaneous albinism. A 76-year-old Caucasian male with a past medical history of oculocutaneous albinism and recurrent urothelial carcinoma was found to have a mass in the left eye, suspicious for ciliochoroidal melanoma. On examination, visual acuity was 20/400 in both eyes (OU). External examination showed iris transillumination defects. Funduscopic examination OU revealed blonde fundus, optic nerve hypoplasia, and foveal hypoplasia, confirmed on optical coherence tomography. Funduscopic examination of the left eye revealed an inferonasal amelanotic ciliochoroidal mass, measuring 12.0 mm × 13.0 mm × 8.8 mm. There was visible intrinsic tumor vasculature and overlying subretinal fluid. B-scan ultrasonography demonstrated a hypoechoic, dome-shaped mass. The clinical and imaging features were consistent with amelanotic ciliochoroidal melanoma. The patient was treated with iodine-125 plaque radiotherapy. At the 4-month follow-up, the tumor demonstrated regression from 8.8 mm to 3.2 mm in thickness. Despite the apparent lack of uveal pigmentation, patients with oculocutaneous albinism can develop uveal melanoma.