Raksha Rao1, Renelle Pointdujour-Lim1, Arupa Ganguly2, Carol L Shields1. 1. Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. 2. Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
Abstract
PURPOSE: To report a case of unilateral multifocal melanoma in a patient with germ line BRCA-associated protein 1 mutation. METHODS: Case report. RESULTS: A 67-year-old white woman with a family history of lung and liver cancers developed blurred visual acuity of 20/30 in the left eye. She was discovered to have two independent pigmented choroidal melanomas in the macula and superotemporally, both demonstrating overlying subretinal fluid and orange pigment. Both melanomas were treated with a single custom-designed Iodine 125 brachytherapy device. Upon systemic evaluation, asymptomatic renal cell carcinoma was found, and blood lymphocyte testing for germ line BRCA-associated protein 1 mutation was positive. CONCLUSION: Multifocal choroidal melanoma is exceedingly rare. Patients with uveal melanoma, especially if multifocal, and those with other systemic malignancy or family history of cancers should be tested for germ line BRCA-associated protein 1 mutation. Lifelong monitoring for other systemic malignancies is advised.
PURPOSE: To report a case of unilateral multifocal melanoma in a patient with germ line BRCA-associated protein 1 mutation. METHODS: Case report. RESULTS: A 67-year-old white woman with a family history of lung and liver cancers developed blurred visual acuity of 20/30 in the left eye. She was discovered to have two independent pigmented choroidal melanomas in the macula and superotemporally, both demonstrating overlying subretinal fluid and orange pigment. Both melanomas were treated with a single custom-designed Iodine 125 brachytherapy device. Upon systemic evaluation, asymptomatic renal cell carcinoma was found, and blood lymphocyte testing for germ line BRCA-associated protein 1 mutation was positive. CONCLUSION: Multifocal choroidal melanoma is exceedingly rare. Patients with uveal melanoma, especially if multifocal, and those with other systemic malignancy or family history of cancers should be tested for germ line BRCA-associated protein 1 mutation. Lifelong monitoring for other systemic malignancies is advised.
Authors: Nakul Singh; Rahul Singh; Randy Chris Bowen; Mohamed H Abdel-Rahman; Arun D Singh Journal: Am J Ophthalmol Date: 2020-12-11 Impact factor: 5.258