CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME

• Published in: Retinal cases & brief reports Vol. 9; no. 4; p. 327
• Main Authors: Itty, Sujit, Richter, Elizabeth R, McCannel, Tara A
• Format: Journal Article
• Language: English
• Published: United States 2015
• Subjects: Choroid Neoplasms - etiology; Female; Humans; Melanoma - etiology; Middle Aged; Waardenburg Syndrome - complications
• ISSN: 1937-1578
• DOI: 10.1097/ICB.0000000000000204

To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. Clinical examination and multimodal imaging of the case. A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.