Search

In the management of retinoblastoma, it is important to remember that there is an entire patient to treat – not just an intraocular tumor. Children with heritable retinoblastoma who have a germ-line mutation in RB1 have an increased risk of developing a second malignancy. All familial cases, all bilateral cases, and approximately 15 % of unilateral cases fall into this category. The most common secondary malignancies are sarcomas, melanoma, and brain tumors. The association of retinoblastoma and an intracranial neuroblastic malignancy, known as “trilateral retinoblastoma,” most often involves the pineal gland (“pineoblastoma/pinealoblastoma”) but may also involve parasellar and suprasellar regions ( Chap. 20) [1–3]. The increased risk of developing second, non-ocular malignancies for survivors of heritable retinoblastoma is estimated to be 20 times higher than the general population [4].

Autofluorescence is a relatively new, noninvasive diagnostic tool recently introduced in the armamentarium of intraocular tumor diagnosis and characterization. This technique may reveal the effects of choroidal tumors on the overlying retinal pigment epithelium and may also provide specific information on intrinsic pigments that compose and characterize benign and malignant, congenital and acquired chorioretinal lesions. Lipofuscin, melanin, and melanolipofuscin strongly influence the different autofluorescence patterns of chorioretinal tumors, but other pigments may theoretically influence the autofluorescence pattern of these lesions. In this chapter we review the role of autofluorescence in the diagnosis of benign and malignant chorioretinal.

Cryotherapy (or cryosurgery) is the technique of precise freezing and thawing of undesirable tissue resulting in cell death and regression. It is a highly effective technique available to the ophthalmologist for local control and eradication of various intra- and periocular tumors and can serve as an alternative or adjunct to other methods such as surgery or radiotherapy.

■ Intraocular tumors are conventionally diagnosed with noninvasive techniques, namely, clinical characteristics, angiographic and ultrasonographic features. ■ Rarely, intraocular masses require histopathology to increase diagnostic yield. ■ Results from intraocular biopsy can lead to revision of the therapeutic plan. ■ A variety of techniques exist to obtain intraocular tissue, most commonly fine-needle aspiration biopsy (FNAB). ■ Vitrectomy-based biopsy techniques utilizing a 20-gauge aspiration cutter have been performed in an effort to increase the diagnostic yield compared to FNAB, but at the expense of increased complications. ■ Intraocular biopsy based on a 25-gauge aspiration cutter is explored, with the intent of providing the safety benefits of FNAB and the potential benefit of increased diagnostic yield of vitrectomy. ■ Biopsy with 25-gauge aspiration cutter can be performed for anterior segment and posterior segment indeterminate lesions. ■ Albeit with limited follow-up and small number of cases, biopsy with the 25-gauge aspiration cutter did yield adequate amounts of specimen for histopathologic diagnosis, with no significant complications.

In the first edition of this textbook, we stressed the controversies in management of melanomas of the ciliary body and choroid (posterior uveal melanoma). Many of the controversies have been largely resolved, and there continue to be new developments related to the management of patients with posterior uveal melanoma. Therefore, it seems appropriate in this chapter to provide a brief overview of the current options in management of this important intraocular tumor. Other authors will discuss the details of radiation therapy of uveal melanoma.

The most common primary intraocular tumor is uveal melanoma, with an incidence of 6 cases per million per year (Sphields And Shields 1992a). In the United States, it represents less than 0.2% of all cancers (American Cancer Society 1990).

The most common primary intraocular tumors are retinoblastoma in children and uveal melanoma in adults. Enucleation (removal of the eye) was the standard treatment until radiotherapy techniques were found to offer patients “eye and vision-sparing” alternatives (STALLARD 1962, 1966, 1968; ZIMMERMAN et al. 1978)

During the last decade, a number of globe-preserving methods have been introduced in the treatment of malignant choroidal melanoma; these include local tumor resection, photocoagulation, phototherapy with hematoporphyrins, diathermy, tumor irradiation, and most recently thermoradiotherapy (Augsburger et al. 1986; Char et al. 1983; Coleman et al. 1986; Finger et al. 1989; Foulds 1983; Gragoudas et al. 1987; Lommatzsch 1983; Packer 1987; Reyman et al. 1984; Riedel 1987; Riedel et al. 1985, 1988; Vogel 1972). Radiotherapeutic techniques to minimize the dose to uninvolved parts of the eye include brachytherapy by means of radioactive scleral plaques (cobalt 60, iodine 125, ruthenium 106) and external beam irradiation using helium ions or protons (Augsburger et al. 1986; Char et al. 1983; Gragoudas et al. 1987; Lommatzsch 1983; Packer 1987).

Techniques and physical data of brachycurietherapy with ruthenium-106 and other radioisotopes for choroidal melanomas have been described (Brady et al. 1984; Busse and Muller 1983; Lommatzsch 1974, 1983; Muller et al. 1984, 1985; Rotman et al. 1983; Stallard 1966). In the FRG treatment with ruthenium-106 eye applicators has been favored because of easy handling, low rate of side effects or late complications, and very good clinical results (Lommatzsch 1983; Lommatzsch et al. 1986; Guthoff et al. 1986).

Over the past few years fine-needle aspiration (FNA) has gained relatively high acceptance in ophthalmology [9]. With this technique solid or cystic masses of the orbit, lid, or globe can be promptly and inexpensively investigated, greatly increasing the cytodiagnostic possibilities available to the clinical ophthalmologist.