Rishi Pukhraj, Trivedi Mihir, Sreelakshmi Kummamuri
Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, India.
Ocul Oncol Pathol. 2020 Jan;6(1):31-34. doi: 10.1159/000500784. Epub 2019 Jul 10.
There are limited reports of uveal "melanocytic" lesions in patients with oculocutaneous albinism, with no reports from Asia.
In this study, we report 3 eyes with uveal "melanocytic" lesions in Asian patients with oculocutaneous albinism.
Retrospective small case series. Three eyes of 2 Asian patients with oculocutaneous albinism were included. Case 1 was a 54-year-old female who presented with juxtapapillary choroidal melanoma and underwent enucleation. Case 2 was a 39-year-old male with pigmented choroidal nevus in the right eye and suspicious nevus/choroidal variegation in the left eye.
For case 1, metastatic workup including ultrasound of the abdomen, liver function test, and chest X-ray was unremarkable. Magnetic resonance imaging of the cranium ruled out extraocular extension. The left eye was enucleated due to the large tumor size and poor visual potential, and histopathological examination confirmed the diagnosis of choroidal melanoma with mixed cell type. At the last follow-up 6 months after enucleation, there was no evidence of metastasis. Case 2 was observed.
Pigmented choroidal nevus and melanoma are rarely observed in patients with oculocutaneous albinism.
关于眼皮肤白化病患者葡萄膜“黑素细胞”病变的报道有限,亚洲尚无此类报道。
在本研究中,我们报告了3例亚洲眼皮肤白化病患者发生葡萄膜“黑素细胞”病变的病例。
回顾性小病例系列研究。纳入2例亚洲眼皮肤白化病患者的3只眼睛。病例1为一名54岁女性,表现为视乳头旁脉络膜黑色素瘤,接受了眼球摘除术。病例2为一名39岁男性,右眼有色素性脉络膜痣,左眼有可疑痣/脉络膜斑驳。
病例1中,包括腹部超声、肝功能检查和胸部X线在内的转移检查均无异常。头颅磁共振成像排除了眼外扩展。由于肿瘤体积大且视力预后差,左眼被摘除,组织病理学检查确诊为混合细胞型脉络膜黑色素瘤。眼球摘除术后6个月的最后一次随访时,没有转移的证据。病例2进行了观察。
眼皮肤白化病患者很少观察到色素性脉络膜痣和黑色素瘤。