History of present illness
A 6-year-old male patient presented for ocular evaluation after failing his school visual screening examination. Visual acuity was 20/200 in the right eye (OD) and 20/20 in the left eye (OS). The left eye was entirely normal. Intraocular pressure was within normal limits in both eyes (OU), and anterior segment examination OU was unremarkable. Dilated fundus examination OD revealed a clear vitreous cavity but was notable for a retinal lesion ( Fig. 73.1 ). As noted, the fundus examination OS was normal.
Questions to ask
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Are there any additional ocular symptoms (e.g., diplopia, any noted ocular misalignment by parents)?
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What is the patient’s ocular history (e.g., strabismus, amblyopia, ocular trauma)?
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Does the patient have a family history (e.g., of other ocular diseases, but specifically of similar retinal lesions)?
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Are there any neurological symptoms (e.g., seizures, headaches, visual disturbances)?
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Are there any skin findings?
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What is the patient’s complete medical history?
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Medical history and birth history
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Surgical history
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Allergies
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Social history
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Review of systems
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Assessment
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Our patient had no additional ocular symptoms, neurological or skin findings, and no family history of retinal lesions. Additional imaging with fluorescein angiography (FA) was obtained and demonstrated early hypofluorescence of the lesion with delayed and incomplete filling of aneurysms in the mid-late phases ( Fig. 73.2 ).
Fig. 73.2
Fluorescein angiography of the right eye. (A) Early phase showing generalized hypofluorescence of the tumor mass with early focal filling within the saccular aneurysms (B) Midphase of the angiogram, showing progressive slow and incomplete filling of the aneurysms with plasma-erythrocytic filling of the saccular aneurysms.
Differential diagnosis
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Retinal cavernous hemangioma (RCH)
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Retinal capillary hemangioma (von Hippel–Lindau disease)
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Retinal telangiectasias (Coats disease, Leber miliary aneurysm)
Additional characteristics of these diagnoses are described and summarized below.
Working diagnosis
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Given this patient’s incidental finding with no symptoms, clinical presentation on dilated fundus examination, and findings on FA, this patient was diagnosed with an RCH.
Discussion
Retinal cavernous hemangioma (RCH) is a rare benign congenital retinal vascular harmartoma. The etiology is unknown, and most cases are sporadic; however, few cases of familial autosomal dominant inheritance have been reported. , , A review by Wang et al. reported 96 cases published in the literature and found no gender or racial predilection. Although RCH is a congenital lesion, patients are mostly asymptomatic, and therefore the lesion is usually found incidentally on routine examination. The median age of presentation is 21 years of age, with 70% presenting between the ages of 7 and 40 years.
RCHs are unilateral in 90% of cases. The location of the tumor is most commonly in the retinal periphery; however, macular (10–13% of cases) , and optic nerve head lesions may also occur. Patients with macular lesions can experience mild vision disturbances, and those with lesions over the optic nerve head generally have good vision but can have an enlarged blind spot or scotomas. Other clinical symptoms include occasional vitreous hemorrhage (VH), subretinal hemorrhage, retinal detachment, strabismus, and diplopia. Although RCHs are typically isolated findings, they may rarely represent a phakomatosis with associated central nervous system (CNS) and/or skin hemangiomas. Those with CNS involvement can also have neurological symptoms including seizures, headaches, and transient visual disturbances.
On ophthalmological examination, RCHs appear as clusters of saccular aneurysms filled with dark blood, described as a “cluster of grapes”. They fill very slowly on angiography, and there may be layering of the plasma and red blood cells within the aneurysms, which is a consequence of the slow blood flow through the tumor. White or gray fibroglial membranes may eventually develop overlying the tumor. Occasionally, VH may occur, though it is thought that this is due to contracture of the fibroglial membranes and not from increased or enhanced blood flow. VH due to an RCH is often minimal and spontaneously resolves. The surrounding retinal vasculature is usually not affected, there are no feeder vessels, and exudation is extremely rare.
Although our patient has characteristic findings of RCH on the clinical examination and imaging, his presentation is unusual given his young age.
Other differential diagnoses, summarized below, are unlikely:
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Retinal capillary hemangioma (von Hippel–Lindau disease)
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Retinal capillary hemangiomas are benign vascular tumors that arise from the retina or optic disc. They can be isolated lesions or associated with von Hippel–Lindau disease. Patients generally present with blurred vision or visual field (VF) loss. Clinical examination shows a small, round, orange-red tumor with a prominent dilated feeding artery and draining vein ( Fig. 73.3 A). These characteristic feeder vessels and leakage can be seen on FA ( Fig. 73.3 B). RCHs, in contrast, do not have feeder vessels, do not affect normal retinal vasculature, and rarely have exudation or leakage.
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