Optic disk melanocytoma is a rare benign primary pigmented tumor of the optic disk characterized clinically as a dark brown to black lesion with feathery margins [
We report three patients with optic nerve melanocytomas that underwent fine-needle aspiration biopsy and genetic expression profile assessment. Patients were evaluated between 2012 and 2014 (Table
Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Age | 71 | 45 | 74 |
Sex | Female | Female | Male |
Race | Caucasian | Hispanic | Caucasian |
Eye | Left eye | Right eye | Right eye |
Visual acuity before treatment | 20/25 | 20/200 | 20/400 |
Tumor size | 3 × 2 × 1.2 mm | 5 × 5 × 2.1 mm | 10 × 8 × 2.3 mm |
Treatment | PPV/MP/phaco./IOL/FNB/LA/IVT | PPV/MP/phaco./IOL/FNB/LA/IVT | Enucleation |
Gene expression profiling | 1A | 1A | 1A |
Final visual acuity | 20/20 | 20/100 | — |
A 71-year-old Caucasian woman presented to our clinic with obscurations in the left eye (OS). On examination, her best-corrected visual acuity was 20/25 in both eyes (OU). Intraocular pressure was 11 mmHg in the right eye (OD) and 15 mmHg OS. Anterior segment was unremarkable except for moderate nuclear sclerosis OU. Pupils were round and equally reactive to light without an afferent pupillary defect. Dilated fundus examination revealed a highly pigmented, brown, papillary lesion with overlying small drusen OS (Figure
Case 1: fundus photograph of optic disk melanocytoma.
Case 1: fundus multicolor montage photograph and SD-OCT of optic disk melanocytoma fine-needle aspiration biopsy site are shown above. (a) Preoperative imaging of tumor: multicolor, infrared, and SD-OCT. (b) Postoperative day 1. Note the hyperreflective triamcinolone acetonide at the vitreoretinal interface with posterior shadowing. (c) Three months after surgery. SD-OCT shows reduction in tumor volume and no vitreoretinal interface defect.
A 45-year-old Hispanic woman was referred to the clinic for evaluation of an atypical optic nerve head melanocytoma OD. On examination, her best-corrected visual acuity was 20/50 OD and 20/20 OS. Intraocular pressure was 14 mmHg in both eyes. Visual acuity progressively decreased over the next year to the level of 20/200 secondary to cataract and optic nerve head compression. A relative afferent papillary defect developed OD. Visual field constriction OD was present. Dilated fundus examination OD revealed a deeply pigmented lesion in the optic nerve head with adjacent choroid and retinal involvement (Figure
Optic disk photograph and multicolor showing a deeply pigmented lesion in the optic nerve head with adjacent choroid and retinal involvement.
Thickness maps before and after surgery.
A 74-year-old Caucasian male presented to our clinic with an atypical optic disk melanocytoma with associated subretinal fluid and neovascular activity OD. At examination, his best-corrected visual acuity was 20/200 OD and 20/20 OS. Fundus dilation revealed a choroidal papillary and peripapillary pigmented mass with associated subretinal fluid (Figure
Fundus photograph at initial presentation upon examination.
Fundus photograph after 6 months.
Optic nerve melanocytoma is a deeply pigmented elevated lesion within the optic nerve head and often involving nerve fiber layer of the adjacent retina [
Visual prognosis is excellent in most of the cases [
Although melanocytomas do not typically grow [
When extensive involvement of the optic nerve is present and rapid progressive visual loss occurs, malignant transformation should be suspected. However, optic nerve ischemia secondary to spontaneous tumor necrosis cannot be ruled out [
Fundus photography to monitor growth and morphological changes of the lesion is essential in every examination. SD-OCT provides high-resolution imaging that helps to characterize the morphology of the tumor, detects pathologic vascular activity, and assists in the evaluation for growth [
Transscleral and transretinal fine-needle aspiration have been used for cytopathology of intraocular tumors and for genetic material analysis [
Optic nerve melanocytoma has typical characteristics, but it may be confused both clinically and histopathologically with malignant melanoma. Adequate ophthalmological examination, close follow-up visits, and the use of modern ancillary testing must be performed periodically on these patients in order to avoid misdiagnosis and avoid erroneous enucleation. SD-OCT provides excellent visualization of the incision site in the postoperative period. Genetic expression profiling is a useful diagnostic tool for classification and can provide vital information for the ocular oncologist regarding prognosis.
The authors declare that there is no conflict of interests regarding the publication of this paper.