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9 RetCam™ Imaging of Pediatric Intraocular Tumors |
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generally presents in children and young adults. Retinal |
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hemangioblastoma can occur as a sporadic tumor or as |
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part of von Hippel–Lindau disease, especially if there are |
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two or more retinal tumors. Such patients should have |
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lifelong screening for related brain and visceral tumors. |
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9.2.1.4 |
Retinal Cavernous Hemangioma |
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The retinal cavernous hemangioma is a dark red–blue, |
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low flow vascular tumor. Occasionally, it can rupture |
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and produce vitreous hemorrhage. Some cases are |
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associated with the phakomatosis in which there are |
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cavernous hemangiomas of the retina, brain, and skin. |
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9.2.1.5 |
Retinal Racemose Hemangioma |
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Retinal racemose hemangioma is a congenital vascular |
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malformation in which some or all of the retinal vessels are |
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dilated, often to the point that the arterial system cannot be |
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distinguished from the venous system. Visual acuity can be |
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normal for extrafoveal tumors and poor for those with |
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foveal involvement. This tumor can be associated with the |
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Wyburn–Mason syndrome in which similar racemose |
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hemangiomas are found in the midbrain, leading to stroke, |
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and in the mandible, leading to bleeding at dental work. |
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9.2.1.6 |
Vasoproliferative Tumor |
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The retinal vasoproliferative tumor is a vascular mass typi- |
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cally located in the inferotemporal periphery of the fun- |
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dus near the ora serrata in middle-aged and older patients [22]. Occasionally, it is found in children. This benign tumor can produce intraretinal and subretinal exudation, subretinal fluid, cystoid macular edema, and epiretinal membrane, leading to poor visual acuity. This tumor is not associated with von Hippel–Lindau disease. This tumor can be idiopathic or related to pars planitis, retinitis pigmentosa, and inflammatory or traumatic conditions.
Summary for the Clinician
■Retinoblastoma is a serious intraocular malignancy in children that can lead to death if there is optic nerve or choroidal invasion.
■Retinal astrocytic hamartoma can appear like retinoblastoma, but the vessels are not dilated and show traction and the calcification is glistening and not chalky.
■Retinal vascular tumors have different clinical features and can be associated with severe systemic consequences.
9.2.2 Retinal Pigment Epithelium Tumors
There are few retinal pigment epithelium (RPE) tumors that can occur in children including congenital hypertrophy of the RPE, congenital simple hamartoma of the RPE, and combined hamartoma of the retina and RPE [18, 19].
9.2.2.1 Congenital Hypertrophy
of the Retinal Pigment Epithelium
Congenital hypertrophy of the RPE (CHRPE) is a flat pigmented lesion arising deep in the retina, typically in the peripheral fundus [23]. It is often discovered coincidentally on ocular examination. CHRPE can display clinical features that resemble choroidal nevus or choroidal melanoma. CHRPE is generally a stable lesion, but can slowly grow over many years.
9.2.2.2 Congenital Simple Hamartoma
of the Retinal Pigment Epithelium
Congenital simple hamartoma of the RPE is a dark black benign tumor located in the macular region, often immediately adjacent to the foveola [24]. It appears like a black ink spot involving full thickness retina. Fine retinal traction can be noted surrounding the mass. Often, there are slightly dilated feeding and draining retinal vessels. This tumor usually remains stable.
9.2.2.3 Combined Hamartoma
of the Retinal Pigment Epithelium
Combined hamartoma of the retinal and RPE is a tractional mass located in the juxtapapillary region more so than the periphery, often associated with poor visual acuity [25, 26]. This gray–green ill-defined mass displays corkscrew, twisted vessels and retinal traction. Optical coherence tomography reveals peaked and folded retina from traction. Rarely, retinal exudation or hemorrh age is found. This lesion can be associated with neurofibromatosis type 2.
Summary for the Clinician
■CHRPE appears as a flat mass often in the periphery and can show slow enlargement over decades.
■Congenital simple hamartoma of the RPE is found in the macula.
■Combine hamartoma of the RPE and retina can produce poor visual acuity if there is macular involvement.