Retinal and Choroidal Tumors


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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)


Exam Findings


Flat or elevated and pigmented or non-pigmented; overlying drusen and retinal pigment epithelial (RPE) changes common; RPE detachment (10%), choroid neovascularization (CNV) overlying nevus (< 1%), non-pigmented halo (5%)



  • Mnemonic for risk of conversion to melanoma—To Find Small Ocular Melanoma Doing Imaging (TFSOM-DIM):

    To (Thickness > 2mm)


    Find (subretinal Fluid, subretinal fluid [SRF])


    Small (Symptoms of vision loss < 20/50)


    Ocular (Orange pigment)


    Melanoma (Melanoma hollow on ultrasonography)


    Doing IMaging (DIM) (DIaMeter > 5mm)


Testing



  • 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



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Figure 10-1. Choroidal nevus. (A) Fundus photo showing a pigmented lesion with overlying drusen superior to the optic disc. (B) B-scan ultrasound showing an acoustically dense lesion (between arrows). (C) Autofluorescence showing RPE atrophy as hypoautofluorescence and hyperautofluorescent dots indicating drusen. (D) Fluorescein angiogram showing hyperfluorescence in the AV phase. (E) OCT showing nevus compressing the inner choroidal layer (*) and overlying irregularity of the photoreceptor layer (arrow).


Management



  • Typical choroidal nevus without risk factors: observation every 6 months or annually
  • Timing of follow-up can be adjusted by number of risk factors present: choroidal nevus with orange pigment, SRF/CME, acoustic hollowness on B-scan ultrasound and those with symptoms are followed more closely
  • CNV/SRF treatment options: anti-vascular endothelial growth factor (VEGF) injections, photodynamic therapy (PDT), laser photocoagulation or transpupillary thermotherapy (TTT)

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


Exam Findings


Dome-shaped (75%), mushroom-shaped (19%), or flat (6%) diffuse mass located in choroid; overlying orange pigment, secondary non-rhegmatogenous retinal detachment with shifting fluid, and less commonly subretinal or vitreous hemorrhage; juxtapapillary melanoma can rarely invade optic disc causing disc hyperemia and edema



  • Other findings indicative of large tumor/poor prognosis: episcleral sentinel vessels, iris neovascularization, secondary glaucoma, total cataract, choroidal folds, or extraocular extension into orbit

Testing



  • 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


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Figure 10-2. Choroidal melanoma. (A) Fundus photo showing a pigmented lesion in the macular area with overlying orange pigment. (B) B-scan ultrasonogram showing a dome-shaped lesion with choroidal excavation and no extraocular extension. (C) Autofluorescence demonstrating lipofuscin (orange pigment) as hyperautofluorescent speckles and layering into a sediment over the tumor. (D) FA showing hyperfluorescence indicating intralesional circulation in the venous phase. (E) OCT showing tumor in the choroid, shallow retinal detachment with debris on the posterior surface (shaggy photoreceptors).



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



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


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Figure 10-3. Congenital hypertrophy of retinal pigment epithelium. (A) Fundus photo showing lacunae in the lesion. (B) Fundus autofluorescence demonstrating hypoautofluorescent dark area. (C) FA demonstrating a rim of hyperfluorescence in the recirculation phase because of staining. (D) OCT demonstrating thin retina and outer retinal loss.



  • In familial adenomatous polyposis, lesions are often multiple and bilateral with irregular depigmented margins forming a fish tail, comma or comet configuration

Testing




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Figure 10-4. Color fundus photos demonstrating multiple bilateral irregularly-shaped congenital hypertrophy of retinal pigment epithelium lesions (arrowheads) as seen in familial adenomatous polyposis.


Differential Diagnosis


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)


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Figure 10-5. Optic disc melanocytoma. (A) Fundus photo with a darkly pigmented lesion over the optic disc. (B) B-scan ultrasound showing an elevated acoustically solid mass at the optic disc. (C) Fundus autofluorescence shows hypoautofluorescence (masking) at the disc. (D) OCT showing an abruptly elevated mass in the optic disc region with complete shadowing posteriorly.


Differential Diagnosis


Juxtapapillary choroidal melanoma, choroidal nevus, RPE hyperplasia, combined hamartoma of the retina and RPE, adenoma of RPE, metastatic melanoma


Management



  • Observation: annual clinical exam and fundus photography
  • Enucleation: lesions with documented growth and severe visual loss may be enucleated after confirmation on FNAB

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)


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Figure 10-6. Combined hamartoma of the retina and the retinal pigment epithelium. (A) Fundus photo showing a pigmented lesion in the macular area. (B) B-scan ultrasound showing a flat macular lesion. (C) Fundus autofluorescence showing isoautofluorescence. (D) OCT showing folding of the retina, preretinal fibrosis (arrow), and focal vitreous adhesion (*).


Differential Diagnosis


Choroidal melanoma, retinoblastoma, choroidal nevus, congenital hypertrophy of the retinal pigment epithelium, melanocytoma, choroidal osteoma, astrocytic hamartoma


Management



  • Amblyopia therapy for young children
  • Vitrectomy and membrane peeling for cases with vitreous hemorrhage and progressive preretinal gliosis that is not intertwined into the tumor
  • Anti-VEGF therapy, PDT, or laser photocoagulation for choroidal neovascularization

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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Figure 10-7. Retinal astrocytic hamartoma. (A) Fundus photo of a partially calcified retinal astrocytic hamartoma. (B) B-scan ultrasound demonstrating an acoustically dense and highly-reflective calcified lesion. (C) Fundus autofluorescence displaying hyperautofluorescence of the lesion. (D) OCT showing a “moth eaten” appearance with shadowing corresponding to a foci of calcification.

Nov 28, 2021 | Posted by in OPHTHALMOLOGY | Comments Off on Retinal and Choroidal Tumors
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