Figure 17-4 Iris nodules. A, Brushfield spots in Down syndrome. B, Iris freckles. C, Pigment epithelial cyst. Before dilation (left), the iris stroma is bowed forward (arrow) in the area of the cyst, which is invisible posteriorly. After dilation (right), the cyst of the posterior iris epithelium can be seen (arrow) with eye adduction. D, Leukemic infiltration of the iris. Note color variation, prominent vascularity, and stromal thickening. E, Multiple Lisch nodules in neurofibromatosis. F, Koeppe nodules at pupil margin (arrows) in sarcoidosis. G, Busacca nodules in mid-iris (arrows) in sarcoidosis. (Part A courtesy of W.R. Green, MD;

parts B and E courtesy of Timothy G. Murray, MD; parts F and G courtesy of R. Christopher Walton, MD.)

Figure 17-5 A, Iris melanoma, clinical appearance. B, This high-frequency ultrasonogram shows a melanoma mass (asterisk) occupying the iris stroma and anterior chamber angle and abutting the posterior corneal surface (arrow). (Part A

courtesy of Matthew W. Wilson, MD; part B courtesy of Jacob Pe’er, MD.)

Melanoma of the Ciliary Body or Choroid

Ciliary body and choroidal melanomas are the most common primary intraocular malignancies in adults. The incidence in the United States is approximately 6–7 cases per million. The tumor, extremely rare in children, primarily affects patients in their 50s and early 60s; it has a predilection for lightly pigmented individuals. Risk factors have not been conclusively identified but may include

light-colored complexion (white skin, blue eyes, blond hair)

ocular melanocytic conditions such as ocular and oculodermal melanocytosis genetic predisposition (dysplastic nevus syndrome; BAP1 mutation)

Ciliary body melanomas can be asymptomatic in the early stages. Because of their location behind the iris, ciliary body melanomas may be rather large by the time they are detected. Patients who have symptoms most commonly note vision loss, photopsias, or visual field alterations. Ciliary body melanomas are not usually visible unless the pupil is widely dilated (Fig 17-6A). Some erode through the iris root into the anterior chamber and eventually become visible on external examination or with gonioscopy. In rare cases, tumors extend directly through the sclera in the ciliary region, producing a dark epibulbar mass. The initial sign of a ciliary body melanoma may be dilated episcleral sentinel vessels in the quadrant of the tumor (Fig 17-6B). The tumor may eventually become quite large, producing a sectoral or diffuse cataract, subluxated lens (Fig 17-6C), secondary glaucoma, retinal detachment, and even iris neovascularization. In rare instances, a ciliary body melanoma assumes a

diffuse growth pattern that extends 180°–360° around the ciliary body. This type of melanoma is called a ring melanoma (see Chapter 12, Fig 12-18).

The typical choroidal melanoma is a pigmented, elevated, dome-shaped subretinal mass (Fig 177A, B). The degree of pigmentation ranges from totally amelanotic to dark brown. With time, many tumors erupt through the Bruch membrane to assume a mushroom-like shape (Fig 17-7C, D). Prominent clumps of orange pigment at the RPE level may appear over the surface of the tumor, and serous detachment of the neurosensory retina is common. If an extensive retinal detachment develops, anterior displacement of the lens–iris diaphragm and secondary angle-closure glaucoma occasionally occur. Neovascularization of the iris may also appear in such eyes, and there may be spontaneous hemorrhage into the subretinal space. Vitreous hemorrhage is usually seen only in cases when the melanoma has erupted through the Bruch membrane and the retina.

Figure 17-6 A, Ciliary body melanoma, clinical appearance. Such tumors may not be evident unless the pupil is widely dilated. B, Sentinel vessels. C, Ciliary body melanoma, gross pathology. Note mostly amelanotic appearance of this tumor, which is subluxing the lens (asterisk) and causing secondary angle closure. (Part B courtesy of Timothy G. Murray, MD.)

Diagnostic Evaluation

Clinical evaluation of all suspected posterior uveal melanomas of the ciliary body and the choroid should include a history, ophthalmoscopic evaluation, and ancillary testing to definitively establish the diagnosis. When used appropriately, the tests described here enable accurate diagnosis of

and extending upward to the ora serrata. Note the retinal detachment in the lower half of the retina (asterisk). D, Gross pathology. Note the mushroom-shaped cross section of this darkly pigmented tumor and the associated retinal detachment.

(Parts A–C courtesy of Jacob Pe’er, MD.)

Slit-lamp biomicroscopy used in combination with gonioscopy offers the best method for establishing the presence and extent of anterior involvement of ciliary body tumors. The use of highfrequency ultrasound biomicroscopy enables excellent visualization of anterior ocular structures and is a significant adjunct to slit-lamp photography for the evaluation and documentation of anterior segment pathology.

In addition, the presence of sectoral cataract, secondary angle involvement, or sentinel vessel formation may be a clue to the diagnosis of ciliary body tumor. Hruby, Goldmann, and other widefield fundus lenses can be used with the slit lamp to evaluate lesions of the posterior fundus under high magnification. High-magnification fundus evaluation can delineate neurosensory retinal detachment, orange pigmentation, rupture of Bruch membrane, intraretinal tumor invasion, and vitreous involvement. Fundus biomicroscopy with the 3-mirror contact lens is useful in assessing lesions of the peripheral fundus.

Ultrasonography is the most important ancillary tool for evaluating ciliary body and choroidal melanomas (Fig 17-8). It also remains the ancillary test of choice for detection of orbital extension associated with intraocular malignancy. Standardized A-scan ultrasonography provides an accurate assessment of the internal reflectivity and vascularity of a lesion, as well as a measurement of its thickness. Serial examination with A-scan ultrasonography can be used to document growth or regression of an intraocular tumor.

A-scan ultrasonography usually demonstrates a solid tumor pattern with high-amplitude initial echoes and low-amplitude internal reflections (low internal reflectivity). Spontaneous vascular pulsations can also be demonstrated in most cases. B-scan examination provides information about the relative size (height and basal diameters), general shape, and position of intraocular tumors. Occasionally, cross-sectional tumor shape and associated retinal detachment can be detected more easily by ultrasonography than by ophthalmoscopy. B-scan ultrasonography usually shows a domeor mushroom-shaped choroidal mass with a highly reflective anterior border, acoustic hollowness, choroidal excavation, and occasional orbital shadowing. B-scan ultrasonography can be used to detect intraocular tumors in eyes with either clear or opaque media.

Ultrasonography for ciliary body melanomas is more difficult to interpret because the peripheral location of these tumors makes the test technically more demanding to perform. High-frequency ultrasonography is not limited by the technical difficulties associated with standard B-scan testing and enables excellent imaging of the anterior segment and ciliary body.

Figure 17-8 A, Peripapillary choroidal melanoma. B, The peripapillary tumor (arrow) is seen nasal to the optic nerve (asterisk). B-scan ultrasonography is used primarily to show the tumor location and its topography. C, The A-scan ultrasonogram shows characteristic low internal reflectivity (arrow).

Although ultrasonography is generally considered highly reliable in the differential diagnosis of posterior uveal melanoma, it may be difficult or impossible to differentiate a necrotic melanoma from a small subretinal hematoma or a metastatic carcinoma. Advances in 3-dimensional ultrasound imaging may allow for better evaluation of tumor volume, and advances in high-resolution imaging may be able to determine tumor microvasculature patterns predictive of tumor biology (see Chapter 12).

Transillumination may be helpful in evaluating suspected ciliary body or anterior choroidal melanomas. It is valuable in assessing the degree of pigmentation within a lesion and in determining basal diameters of anterior tumors. The shadow of a tumor is visible with a transilluminating light source, preferably a high-intensity fiber-optic device, placed either on the surface of the topically anesthetized eye in a quadrant opposite the lesion or directly on the cornea with a smooth, dark, specially designed corneal cap (Fig 17-9). Fiber-optic transillumination is used during surgery for radioactive applicator insertion to locate the uveal melanoma and delineate its borders.

Fundus photography is valuable for documenting the ophthalmoscopic appearance of choroidal melanoma and for identifying interval changes in the basal size of a lesion in follow-up examinations. Wide-angle fundus photographs (60°–180°) of intraocular tumors can reveal the full extent of most lesions and can document the relationship between lesions and other intraocular structures. The relative positions of retinal blood vessels can be helpful markers of changes in the size of a lesion. Wide-angle fundus cameras enable accurate measurement of the basal diameter of a