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Leucocoria as the presenting sign of a ciliary body melanoma in a child
  1. HAKAN DEMIRCI,
  2. CAROL L SHIELDS,
  3. JERRY A SHIELDS,
  4. SANTOSH G HONAVAR
  1. Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA
  2. Pathology Department
  1. RALPH C EAGLE, JR
  1. Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA
  2. Pathology Department
  1. Dr Carol L Shields, Oncology Service, Wills Eye Hospital, 900 Walnut Street, Philadelphia, PA 19107, USA

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Editor,—Uveal melanoma is generally a disease of adulthood. It has been reported that 0.6% to 1.6% of all uveal melanomas occur in patients under 20 years of age. In a review of 3706 consecutive patients with uveal melanoma, Shields and associates found that 1.1% were children and teenagers younger than 20 years of age, of whom only 0.3% had ciliary body melanoma.

Patients with ciliary body melanoma usually are asymptomatic until the tumour impinges on the lens and causes visual distortion. Children with intraocular tumours generally have few visual symptoms and adapt to visual distortion without complaints. Leucocoria in childhood is the most frequent presenting sign of retinoblastoma, but it is generally not associated with uveal melanoma. We report an unusual case of a 9 year old child with a ciliary body melanoma who presented with leucocoria.

CASE REPORT

A 9 year old white girl was referred to Oncology Service at Wills Eye Hospital with a 1 month history of leucocoria and strabismus in her right eye (Fig 1A). She was otherwise healthy and her medical history was unremarkable.

Figure 1

Slit lamp photograph showing the inferonasal dark tumour, subluxing the cataractous lens, causing leucocoria (A). Gross pathology reveals the heavily pigmented ciliochoroidal mass moulding to the lens (B).

Her visual acuity was hand movements in the right eye and 20/20 in the left eye. The intraocular pressure was 15 mm Hg in each eye. External examination revealed leucocoria in the right eye, 30 degrees of right exotropia, and prominent episcleral sentinel vessel inferotemporally. There was no melanocytosis. Slit lamp biomicroscopy disclosed shallowing of the inferior angle with iris abutting the corneal endothelium between 5:30 and 8:30 o'clock. The cataractous lens was subluxated superiorly and displayed posterior subcapsular and white cortical changes. A heavily pigmented, multilobulated mass was found immediately behind the lens, which was compressed by the tumour. The mass obscured view of the fundus. The left eye was unremarkable.

On transillumination, the mass blocked light transmission for 360° in the pars plana and pars plicata. Ocular ultrasonography (A and B-scan) showed an acoustically hollow, pedunculated mass in the ciliary body region measuring 10 mm in thickness. Ciliary body melanoma was diagnosed and the eye was enucleated.

Histopathological examination revealed a heavily pigmented multilobulated tumour arising from the pars plana (Fig 1B). The highly cellular tumour was composed of a mixture of spindle and epithelioid cells with a predominance of epithelioid cells. About 15–20% of the tumour was composed of melanophages within extensive areas of necrosis (Fig 2). No mitotic figures were identified. The cataractous lens was partially encased and dislocated by tumour. Parts of the iris, ciliary body, and choroid were heavily pigmented and dendritic melanocytes were observed within the sclera and on the episcleral surface, especially near the optic nerve. These findings were consistent with sector ocular melanocytosis. The histopathological diagnosis was ciliary body melanoma and sector ocular melanocytosis.

Figure 2

Histopathology discloses large pleomorphic epithelioid melanoma cells. (A) Haematoxylin and eosin; (B) bleach, both original magnifications ×50).

The patient has been followed for 10 years and has no evidence of local or systemic metastases.

COMMENT

Uveal melanoma is very rare in children and adolescents. Shields and associates reported that approximately 1% of all uveal melanoma patients are 20 years of age or younger at diagnosis. In no case has any of these young patients presented with leucocoria.

Ciliary body melanoma in both children and adults is usually asymptomatic and can attain a large size before it is recognised clinically. The most common presenting manifestations of ciliary body melanoma include dilated episcleral vessels in the quadrant of tumour, secondary hypotony or glaucoma, and subluxation of lens with visual aberration and mild cataract. Leucocoria generally is not present because the patient usually seeks consultation before dense cataract or leucocoria develops. In children leucocoria is an important sign reflecting cataract, retinal detachment, ocular inflammation, or retinoblastoma. Cataract rarely develops in eyes with retinoblastoma despite the presence of a large tumour. Therefore, leucocoria from cataract is an unusual presenting sign of an intraocular tumour in a child, especially ciliary body melanoma and we are unaware of any previous report of this occurrence.

One condition associated with the development of uveal melanoma is ocular melanocytosis. Ocular melanocytosis generally presents as excessive pigmentation in the subcutaneous periocular skin, episclera, uvea, orbit, and meninges. The lifetime risk for uveal melanoma in a patient with ocular melanocytosis is approximately 0.25%. Verdaguer found that four of seven young patients under age 20 years with uveal melanoma had ocular melanocytosis. It is possible that sector melanocytosis may have predisposed to the development of melanoma in this case.

The prognosis for large uveal melanoma generally is poor. Barr and associates reported that the 15 year survival for posterior uveal melanoma in children and adolescents was 75%, suggesting that it does not differ from its adult counterparts. They showed that a large tumour size of 10 mm or greater and extraocular extension were poor prognostic features. Shields and associates also found that large tumour size was an important predictive factor of metastatic disease in children with uveal melanoma.Despite the large size of the tumour in our patient, no mitotic activity was found on histopathological examination. This may explain the continued survival of our patient.

In conclusion, we report a case of ciliary body melanoma in a 9 year old child who presented initially with a tumour induced cataract. A unilateral cataract in a child deserves an evaluation for common and rare conditions such as ciliary body melanoma.

Acknowledgments

Presented at the Eastern Ophthalmic Pathology Society on 19 November 1990 at Nassau, Bahamas.

Support provided by the International Award of Merit in Retina Research, Houston, TX (JS), Lions Eye Bank, Philadelphia, PA (JS, CS), Macula Foundation (CS), the Orbis International, New York, NY (SH), the Hyderabad Eye Research Foundation (SH) and the Noel T and Sara L Simmonds Endowment for Ophthalmic Pathology, Wills Eye Hospital (RE) and the Eye Tumor Research Foundation, Philadelphia, PA, USA.

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