Choroidal Nevus and Melanoma in Patients with Oculocutaneous Albinism

Abstract

Background

There are limited reports of uveal “melanocytic” lesions in patients with oculocutaneous albinism, with no reports from Asia.

Objectives

In this study, we report 3 eyes with uveal “melanocytic” lesions in Asian patients with oculocutaneous albinism.

Methods

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.

Results

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.

Conclusion

Pigmented choroidal nevus and melanoma are rarely observed in patients with oculocutaneous albinism.