Purpose: The aim of the present study is to report the clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese patients. Patients and Methods: Patients with nevus of Ota with choroidal melanoma were identified by searching the computerized database and patient medical records of Beijing Shijitan Hospital and Shaanxi Yulin Tradition Chinese Medicine Hospital. The patients (2 men and 1 woman; mean age, 52 years; age range, 52‑57 years) were all treated by enucleation or local endoresection, and choroidal melanoma was confirmed by pathologic examination. Results: The patients (2 men and 1 woman; mean age, 52 years; age range, 52‑57 years) were all treated by enucleation or local endoresection, and choroidal melanoma was confirmed by pathologic examination. The study found that patients with nevus of Ota had higher risk for malignant melanoma. Furthermore, we found two suspicious gene mutations involving FAM111B and DSC2, that might contribute to the etiology of the disease. Conclusions: The results indicate that patients with nevus of Ota should undergo regular ophthalmological observation and be aware of the potential for malignancy.
Keywords: Choroidal melanoma; gene mutation; nevus of Ota.