FaCD Online Syndrome Fact Sheet

Last updated: 02 Jul 2008

Name: Oculodermal Melanocytosis, Familial Clustering of

Synonym: incl.: Ocular Melanocytosis, Familial Nevus of Ota

Mode of Inheritance: AD?/ multifact?/ spor

Tumor features

melanoma, cutaneous
melanoma, uveal (choroidal, ciliary body, iris)/ocular

Non-tumor features

hyperpigmentation of the uvea and episclera, congenital


This disorder is characterized by familial clustering of cases of congenital hyperpigmentation of the uvea (iris, ciliary body and choroid) and the episclera[1]. In addition, the skin may show nevi of Ota, which may progress to cutaneous malignant melanoma. Uveal melanoma, sometimes multifocal, has been known to develop in patients with sporadic ocular/oculodermal melanocytosis[2-4], but apparently has not been observed (yet) in familial cases and the same is true for cutaneous melanoma[1,5].


[1] Singh AD, Wang MX, Donoso LA, Shields CL, De Potter P, Shields JA. Genetic aspects of uveal melanoma: A brief review. Semin Oncol 23[6], 768-772. 1996.
[2] Al-Sadhan Y, Shawaf S, Tabbara K. Oculodermal melanosis with choroidal melanoma in a black patient: a case report. Eye (London, England) 2006; 20(12):1437-8.
[3] Infante de German-Ribon R, Singh AD, Arevalo JF, Driebe W, Eskin T. Choroidal melanoma with oculodermal melanocytosis in Hispanic patients. American journal of ophthalmology 1999; 128(2):251-3.
[4] Patel BC, Egan CA, Lucius RW, Gerwels JW, Mamalis N, Anderson RL. Cutaneous malignant melanoma and oculodermal melanocytosis (nevus of Ota): report of a case and review of the literature 1998; 38(5 Pt 2):862-5.
[5] Trese MT, Pettit TH, Foos RY, Hofbauer J. Familial Nevus of Ota. Annals of ophthalmology 1981; 13(7):855-7.