History of present illness
A 28-year-old male patient was referred by an outside ophthalmologist for subacute vision loss in the right eye associated with a peripheral mass. The vision loss was reported to be painless and constant.
Ocular exam findings
Initial evaluation revealed best-corrected visual acuity of 20/40 in the right eye and 20/20 in the left eye. Intraocular pressures, pupils, confrontational visual fields, and extraocular motility were within normal limits. The anterior segment of both eyes was unremarkable. Dilated fundus examination of the right eye revealed vitreous debris and a yellowish-pink mass with overlying retinal vessels, exudate, and associated subretinal fluid located in the inferotemporal periphery ( Fig. 67.1 ). The fundus of the left eye was unremarkable.
Imaging
Optical coherence tomography (OCT), fluorescein angiogram (FA), and B-scan ultrasonography were then obtained. OCT was normal and showed an intact foveal contour without evidence of macular edema or epiretinal membrane in either eye. FA revealed early filling and leakage of the retinal vessels overlying the elevated mass lesion ( Figs. 67.2 and 67.3 ). The vessels were mildly dilated, nontortuous, and slightly increased in number compared with normal. In the late frames, there was extensive leakage from the inferotemporal lesion. There was also peripheral leakage with early termination of retinal vessels noted in both eyes. B-scan ultrasonography revealed an elevated lesion with maximal height of 4.02 mm of homogenous composition and medium to high internal reflectivity without shadowing ( Fig. 67.4 ).
Questions to ask
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Are there any current or previous kidney or neurological problems?
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The review of systems for the patient was normal, and he denied any medical problems.
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Does the patient have any family members with inherited medical conditions or kidney or neurological problems?
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The patient denied any inherited familial conditions, ocular or otherwise.
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Are there any other ocular conditions or episodes of eye pain or inflammation?
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The patient denied any ocular history, including episodes of eye pain or inflammation.
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Was the patient born prematurely?
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The patient had a normal birth and delivery.
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Assessment
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A 28-year-old male patient without known medical, ocular, or familial history presents with subacute decreased vision of the right eye and is found to have an inferotemporal mass lesion with mildly dilated overlying retinal vessels, exudates, and associated retinal detachment. FA demonstrated extensive leakage of these retinal vessels in the right eye and early termination of the temporal retinal vessels in both eyes. B-scan demonstrated a raised lesion of medium to high internal reflectivity.
Differential diagnosis
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Vasoproliferative retinal tumor, primary or secondary
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Retinal capillary hemangioblastoma, sporadic or familial (von Hippel–Lindau disease)
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Amelanotic melanoma
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Coats disease (retinal telangiectasis)
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Retinal or choroidal granuloma
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Choroidal metastasis
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Retinoschisis
Working diagnosis
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The inferotemporal pink-yellow lesion with overlying retinal vessels and surrounding exudates is consistent with a vasoproliferative tumor (VPT), likely secondary to undiagnosed familial exudative vitreoretinopathy (FEVR), which was seen in both eyes as early termination of temporal retinal vessels with vascular dragging and peripheral ischemia. The vessels are not extensively dilated or tortuous as would be seen in a retinal hemangioblastoma. The ultrasound is less likely amelanotic choroidal melanoma given its medium to high internal reflectivity.
Multimodal testing and results
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Color fundus photograph: Fundus photography often reveals a pink-red elevated lesion with overlying retinal vessels in the preequatorial retina, commonly in the inferotemporal quadrant. Frequently, there are surrounding exudates. Visualization of the lesion can be obscured by hemorrhage covering the tumor surface or within the vitreous.
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OCT: OCT of the macula can reveal secondary epiretinal membrane or cystoid macular edema, which can lead to vision loss.
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FA: FA shows minimally dilated feeding vessels with extensive leakage of the lesion. FA can be helpful in defining the lesion and highlighting any other retinal vascular abnormalities.
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B-scan ultrasound: B-scan shows an elevated lesion, usually ranging from 1.0 to 5.0 mm in height. The average height is 3.0 mm. The internal reflectivity is typically medium to high, though this can vary.
Management
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The leading differential diagnosis for VPT is retinal hemangioblastoma, with prominent dilated and tortuous associated retinal vessels distinguishing VPT from retinal hemangioblastoma. In cases of diagnostic uncertainty, tumor biopsy may be indicated.
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VPT can be primary (idiopathic) or secondary to another ocular condition. Reported associated conditions include intermediate uveitis, retinitis pigmentosa, Coats disease, ocular toxocariasis, FEVR, and retinopathy of prematurity. Additional testing should be taken as indicated to evaluate for any associated conditions.
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There currently exists no standard of care for treating VPTs. Management can include observation, cryotherapy, laser photocoagulation, photodynamic therapy, brachytherapy, intravitreal bevacizumab injection, intravitreal or periocular steroid injection, local resection, or any combination thereof. Management typically varies based on the size and features of the tumor.
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In general, patients with small, asymptomatic tumors can be closely observed until symptoms develop or the tumor shows growth. Patients with vision-threatening complications require prompt treatment.
Follow-up care
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Patients should be followed closely to monitor for tumor progression and the development of sequelae that can lead to vision loss. This patient did receive several anti-VEGF injections OD and peripheral scatter photocoagulation OU. The vasoproliferataive tumur has remianed stable for 5 years, with VA of 20.30 OD. Genetic testing was offered, though the patient has refused thus far.
Algorithm 67.1 : Differential diagnosis
