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Retinal and Choroidal Tumors

CHOROIDAL NEVUS

Prashant Yadav, MD, FRCS, FACS and Carol L. Shields, MD

• Occurs in 5% to 7% of Caucasian adults; less common in non-Caucasians
  
• Rare in children; precursor cells present at birth but do not become apparent until puberty; with aging, becomes slightly larger, with more multifocality, and greater prevalence of drusen
  
• Small risk for transformation into melanoma

Signs and Symptoms

Asymptomatic; photopsia, floaters, or vision loss if subfoveal (rare)

• Fundus photography: document tumor features and diameter (Figure 10-1A)
  
• Ultrasonography: monitor thickness and assess internal characteristics (Figure 10-1B)
  
• Fundus autofluorescence: overlying orange pigment as hyperautofluorescent spots and RPE atrophy as hypoautofluorescence (Figure 10-1C)
  
• Fluorescein angiography (FA): hypofluorescence of most choroidal nevi, but occasionally with pinpoint foci of RPE hyperfluorescence on tumor surface (Figure 10-1D)
  
• Enhanced depth imaging-optical coherence tomography (EDI-OCT): subtle SRF, cystoid macular edema (CME) and overlying orange pigment (Figure 10-1E)

Differential Diagnosis

Choroidal melanoma, choroidal hemangioma, choroidal metastasis, choroidal lymphoma, choroidal granuloma, neovascular age-related macular degeneration

CHOROIDAL MELANOMA

Prashant Yadav, MD, FRCS, FACS and Carol L. Shields, MD

Most common primary malignancy of eye: 6 cases per million with ~2500 new cases annually in the United States

• Occurs in adult Caucasians (98%); uncommon in non-Caucasians (2%) and children (1%)
  
• Unilateral (99%) as a rule, bilateral very rare (< 1%). If bilateral, could be related to ocular melanocytosis or BAP-1 cancer predisposition syndrome.
  
• Predisposing conditions: choroidal nevus, ocular melanocytosis, arc welding

Signs and Symptoms

Vision loss, visual field defect, flashes and floaters, induced hyperopia, metamorphopsia, color vision defect and rarely pain; may also be asymptomatic

• Fundus photography: document tumor features and diameter (Figure 10-2A)
  
• Ultrasonography: measures thickness, diameter and distance from optic nerve as well as presence of exudative retinal detachment and extraocular extension (Figure 10-2B)
  
  
  
  • Classic findings: internal homogeneity with acoustic hollowness, low to medium reflectivity, choroidal excavation and orbital shadowing; mushroom shape, when present, is nearly pathognomonic
  
  
• Fundus autofluorescence: hyperautofluorescence of the overlying lipofuscin (orange pigment) within RPE (Figure 10-2C)
  
• FA: mottled hyperfluorescence in vascular filling phase and diffuse late staining of mass and its overlying SRF; melanomas which break through Bruch’s membrane are more likely to show double circulation in which both retinal and choroidal vessels are evident (Figure 10-2D)
  
• Indocyanine green angiography: intrinsic tumor or dual circulation, mottled hyperfluorescence during the arteriovenous (AV) phase and diffuse late staining of mass and its overlying SRF; hypofluorescence of thin minimal vascular melanomas and hyperfluorescence of larger, thicker tumors

• OCT: Detects SRF, orange pigment and intrinsic features of mass. Also useful in detecting small melanomas with SRF and shaggy photoreceptors (Figure 10-2E).
  
• Transscleral transillumination: Used commonly for ciliary body tumors. Performed in opposite quadrant to tumor. Helps delineate size and outline of tumor in preparation for plaque application.
  
• Fine needle aspiration biopsy (FNAB): obtain cytology and cytogenetic results for tumor confirmation and prognostic factors
  
• Genetic studies from FNAB: alterations in chromosomes 3 and 8 considered high-risk for metastasis

Differential Diagnosis

Choroidal metastasis, choroidal lymphoma, metastatic cutaneous melanoma; choroidal hemangioma, choroidal nevus, posterior scleritis, congenital hypertrophy of the retinal pigment epithelium, retinal artery microaneurysm, choroidal granuloma, prominent vortex vein ampulla

Management

• TTT: used for small pigmented melanomas < 2.5 mm thick in which growth is documented or in combination with plaque radiotherapy in thicker tumors
  
• PDT: used for small non-pigmented melanomas
  
• Plaque brachytherapy: used for small, medium, and large melanoma with comparable survival results compared to enucleation
  
• Charged particle irradiation (proton beam or helium ion): used for small, medium, and large melanoma and has comparable survival rates to plaque brachytherapy
  
• Local resection: if located in peripheral choroid and ciliary body
  
  
  
  • Partial lamellar sclerouvectomy (PLSU): excellent results in experienced hands; supplemental brachytherapy can be then used if tumor is high grade
  
  
• Enucleation: preferable for tumors > 18 mm in diameter and 10 mm in thickness
  
• Orbital exenteration: for tumors showing massive orbital extension
  
• Combined therapy: plaque treatment followed by TTT

CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM

Prashant Yadav, MD, FRCS, FACS and Carol L. Shields, MD

Median age at diagnosis is 45 years old; excellent prognosis

Signs and Symptoms

Asymptomatic

Exam Findings

Well-demarcated flat pigmented lesion at level of RPE that can range from a black homogenous lesion to a completely depigmented lesion with majority (88%) pigmented; usually located in mid-periphery and periphery; well-defined depigmented foci (lacunae) in 43%; most solitary lesions have a typical depigmented halo around margin; over 80% enlarge over long-term follow-up

• In rare cases (< 1%) a nodular growth develops, representing adenoma or adenocarcinoma; growth gradually acquires a retinal feeding artery and draining vein leading to yellow intraretinal exudation and exudative retinal detachment

• Fundus photography: document tumor features and diameter (Figure 10-3A)
  
• Fundus autofluorescence: lesion appears dark with no autofluorescence (Figure 10-3B)
  
• FA: blockage of fluorescence throughout most of sequence; patches of choroidal fluorescence appear through depigmented areas throughout angiography sequence (Figure 10-3C)
  
• OCT: thickened RPE layer with overlying retinal atrophy (Figure 10-3D)

Choroidal melanoma, choroidal nevus, multifocal epithelial hypertrophy associated with Gardner’s syndrome (Figure 10-4), congenital grouped hypertrophy of the RPE

Management

• Observe as most lesions have excellent prognosis
  
• Laser photocoagulation and cryotherapy: if a small nodular growth evolves and produces exudation and SRF, laser or cryotherapy can be used to stop progression
  
• Vitreoretinal surgery: if growth produces surface wrinkling in macular area
  
• If suspect familial adenomatous polyposis, patients should undergo colonoscopy due to higher risk of colon cancer

OPTIC DISC MELANOCYTOMA

Prashant Yadav, MD, FRCS, FACS and Carol L. Shields, MD

Rare unilateral melanocytic nevus occurring most frequently in optic nerve head but may arise anywhere in uvea with mean age at diagnosis of 50 years old

Signs and Symptoms

Most cases asymptomatic; visual loss, optic disc and/or retinal edema

Exam Findings

Dark brown or black lesion which often extends into peripapillary retina and choroid; optic disc edema, retinal edema, localized SRF, retinal exudation, retinal hemorrhage, vitreous seeds and retinal vein obstruction; may undergo spontaneous necrosis with profound visual loss

• Malignant transformation into melanoma occurs in 1% to 2%: progressive growth and visual loss herald malignant transformation

Testing

• Fundus photography: document tumor features and diameter (Figure 10-5A)
  
• FA: typically shows hypofluorescence throughout the angiogram but may have hyperfluorescence if secondary disc edema or RPE atrophy
  
• Ultrasonography: thickening of optic nerve and in area of lesion (Figure 10-5B)
  
• Fundus autofluorescence: hypoautofluorescence of lesion (Figure 10-5C)
  
• EDI-OCT: optically dense dome-shaped surface with abrupt shadowing and occasional vitreous opacities (Figure 10-5D)

COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM

Prashant Yadav, MD, FRCS, FACS and Carol L. Shields, MD

• Likely congenital, occurring sporadically in normal individuals
  
• Most often unilateral, but when bilateral, particularly in children, consider neurofibromatosis type 2

Signs and Symptoms

Decreased vision or strabismus in early childhood (most common) through early adulthood

Exam Findings

Ill-defined gray-green retinal mass that demonstrates retinal traction with dragging and/or tortuosity of overlying retinal vessels; classically located on or adjacent to optic disc but can be seen in extrapapillary areas of fundus; of variable size ranging from 1 to 10 mm; peripheral lesions can cause retinal dragging and a dragged disc appearance, and may be associated with peripheral ischemia and secondary peripheral neovascularization

Testing

• Fundus photography: document tumor features and diameter (Figure 10-6A)
  
• FA: shows markedly abnormal retinal vessels in mass and gradual late staining of lesion
  
• Ultrasonography: flat lesion (Figure 10-6B)
  
• Fundus autofluorescence: no autofluorescence (Figure 10-6C)
  
• OCT: irregular lesion with vitreoretinal traction in a “sawtooth” or “folded” pattern that replaces full-thickness retinal tissue (Figure 10-6D)

RETINAL ASTROCYTIC HAMARTOMA

Prashant Yadav, MD, FRCS, FACS and Carol L. Shields, MD

• Benign retinal tumor composed of glial cells, predominantly astrocytes
  
• Congenital in most cases but may become clinically apparent after birth
  
• Associated with tuberous sclerosis (chromosome 9 and 16), neurofibromatosis type 1 and retinitis pigmentosa; patients with tuberous sclerosis often have 1 or more astrocytomas which may be bilateral

Signs and Symptoms

Asymptomatic and may be detected on screening for tuberous sclerosis; decreased vision if lesion is in macular area

Exam Findings

• Noncalcified variant: gray-yellow sessile lesion in inner aspect of sensory retina; larger lesions have a gray-yellow color and may cause retinal traction
  
• Calcified variant: glistening yellow spherules of calcification that differ from duller, chalky calcification of retinoblastoma

Testing

• Fundus photography: document tumor features and diameter (Figure 10-7A)
  
• FA: characteristic network of small blood vessels in venous phase with fairly intense late staining
  
• Ultrasonography: calcified plaque as seen with an osteoma or retinoblastoma with high internal reflectivity and orbital shadowing (Figure 10-7B)

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